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{{Infobox_gene}}
{{PBB_Controls
'''Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1''' is an [[enzyme]] that in humans is encoded by the ''POMGNT1'' [[gene]].<ref name="pmid11742540">{{cite journal |vauthors=Zhang W, Betel D, Schachter H | title = Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I | journal = Biochem J | volume = 361 | issue = Pt 1 | pages = 153–62 |date=Dec 2001 | pmid = 11742540 | pmc = 1222290 | doi =  10.1042/0264-6021:3610153}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55624| accessdate = }}</ref>
| update_page = yes
__NOTOC__
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
| HGNCid = 19139
| Symbol = POMGNT1
| AltSymbols =; DKFZp761B182; FLJ20277; GnTI.2; MEB; MGAT1.2
| OMIM = 606822
| ECnumber = 
| Homologene = 9806
| MGIid = 1915523
| GeneAtlas_image1 = PBB_GE_POMGNT1_217944_at_tn.png
| Function = {{GNF_GO|id=GO:0003827 |text = alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity}} {{GNF_GO|id=GO:0016757 |text = transferase activity, transferring glycosyl groups}} {{GNF_GO|id=GO:0030145 |text = manganese ion binding}} {{GNF_GO|id=GO:0047223 |text = beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity}}
| Component = {{GNF_GO|id=GO:0000139 |text = Golgi membrane}} {{GNF_GO|id=GO:0005792 |text = microsome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006487 |text = protein amino acid N-linked glycosylation}} {{GNF_GO|id=GO:0006493 |text = protein amino acid O-linked glycosylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55624
    | Hs_Ensembl = ENSG00000085998
    | Hs_RefseqProtein = NP_060209
    | Hs_RefseqmRNA = NM_017739
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 46426942
    | Hs_GenLoc_end = 46458564
    | Hs_Uniprot = Q8WZA1
    | Mm_EntrezGene = 68273
    | Mm_Ensembl = ENSMUSG00000028700
    | Mm_RefseqmRNA = XM_983737
    | Mm_RefseqProtein = XP_988831
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 115648997
    | Mm_GenLoc_end = 115657776
    | Mm_Uniprot = Q91X88
  }}
}}
'''Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase''', also known as '''POMGNT1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55624| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of [[muscle-eye-brain disease]] (MIM 253280).<ref name=meb>{{Cite web|url=http://www.omim.org/entry/253280|title=OMIM Entry              - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3|website=www.omim.org|access-date=2016-04-26}}</ref>
{{PBB_Summary
| section_title =
| summary_text = The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55624| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
{{refbegin | 2}}
=== Further reading ===
{{PBB_Further_reading
{{refbegin|2}}
| citations =
*{{cite journal  |vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | author=Suzuki Y |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |name-list-format=vanc| author2=Yoshitomo-Nakagawa K | author3=Maruyama K | display-authors=3  | last4=Suyama  | first4=A  | last5=Sugano  | first5=S  }}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | author=Cormand B |title=Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 126–35 |year= 1999 |pmid= 9915951 |doi=10.1086/302206  | pmc=1377710  |name-list-format=vanc| author2=Avela K  | author3=Pihko H  | display-authors=3  | last4=Santavuori | first4=Pirkko | last5=Talim  | first5=Beril  | last6=Topaloglu  | first6=Haluk  | last7=De La Chapelle  | first7=Albert  | last8=Lehesjoki  | first8=Anna-Elina }}
*{{cite journal | author=Cormand B, Avela K, Pihko H, ''et al.'' |title=Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 126-35 |year= 1999 |pmid= 9915951 |doi= }}
*{{cite journal  | author=Dias Neto E |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=10.1073/pnas.97.7.3491 | pmc=16267 |name-list-format=vanc| author2=Correa RG  | author3=Verjovski-Almeida S  | display-authors=3  | last4=Briones  | first4=MR  | last5=Nagai  | first5=MA  | last6=Da Silva Jr  | first6=W  | last7=Zago | first7=MA  | last8=Bordin  | first8=S  | last9=Costa  | first9=FF  }}
*{{cite journal  | author=Dias Neto E, Correa RG, Verjovski-Almeida S, ''et al.'' |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491-6 |year= 2000 |pmid= 10737800 |doi=  }}
*{{cite journal  | author=Yoshida A |title=Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 |journal=Dev. Cell |volume=1 |issue= 5 |pages= 717–24 |year= 2002 |pmid= 11709191 |doi=10.1016/S1534-5807(01)00070-3 |name-list-format=vanc| author2=Kobayashi K | author3=Manya H  | display-authors=3  | last4=Taniguchi  | first4=Kiyomi  | last5=Kano  | first5=Hiroki  | last6=Mizuno  | first6=Mamoru  | last7=Inazu  | first7=Toshiyuki | last8=Mitsuhashi  | first8=Hideyo  | last9=Takahashi  | first9=Seiichiro  }}
*{{cite journal | author=Yoshida A, Kobayashi K, Manya H, ''et al.'' |title=Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. |journal=Dev. Cell |volume=1 |issue= 5 |pages= 717-24 |year= 2002 |pmid= 11709191 |doi=  }}
*{{cite journal  | author=Triki C |title=Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients |journal=Neuromuscul. Disord. |volume=13 |issue= 1 |pages= 4–12 |year= 2003 |pmid= 12467726 |doi=10.1016/S0960-8966(02)00188-8 |name-list-format=vanc| author2=Louhichi N  | author3=Méziou M  | display-authors=3  | last4=Choyakh  | first4=Fakher  | last5=Kéchaou  | first5=Mohamed Salah  | last6=Jlidi  | first6=Rachid  | last7=Mhiri  | first7=Chokri  | last8=Fakhfakh  | first8=Faiza  | last9=Ayadi  | first9=Hamadi  }}
*{{cite journal  | author=Zhang W, Betel D, Schachter H |title=Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I. |journal=Biochem. J. |volume=361 |issue= Pt 1 |pages= 153-62 |year= 2002 |pmid= 11742540 |doi=  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal | author=Triki C, Louhichi N, Méziou M, ''et al.'' |title=Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. |journal=Neuromuscul. Disord. |volume=13 |issue= 1 |pages= 4-12 |year= 2003 |pmid= 12467726 |doi=  }}
*{{cite journal  | author=Taniguchi K |title=Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease |journal=Hum. Mol. Genet. |volume=12 |issue= 5 |pages= 527–34 |year= 2003 |pmid= 12588800 |doi=10.1093/hmg/ddg043 |name-list-format=vanc| author2=Kobayashi K  | author3=Saito K  | display-authors=3  | last4=Yamanouchi  | first4=H  | last5=Ohnuma  | first5=A  | last6=Hayashi  | first6=YK  | last7=Manya  | first7=H  | last8=Jin  | first8=DK  | last9=Lee  | first9=M  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Manya H |title=Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease |journal=Biochem. Biophys. Res. Commun. |volume=306 |issue= 1 |pages= 93–7 |year= 2003 |pmid= 12788071 |doi=10.1016/S0006-291X(03)00924-0 |name-list-format=vanc| author2=Sakai K  | author3=Kobayashi K  | display-authors=3  | last4=Taniguchi  | first4=Kiyomi  | last5=Kawakita  | first5=Masao  | last6=Toda  | first6=Tatsushi  | last7=Endo  | first7=Tamao  }}
*{{cite journal | author=Taniguchi K, Kobayashi K, Saito K, ''et al.'' |title=Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. |journal=Hum. Mol. Genet. |volume=12 |issue= 5 |pages= 527-34 |year= 2003 |pmid= 12588800 |doi=  }}
*{{cite journal  | author=Clark HF |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003  | pmc=403697  |name-list-format=vanc| author2=Gurney AL  | author3=Abaya E  | display-authors=3  | last4=Baker  | first4=K  | last5=Baldwin  | first5=D  | last6=Brush  | first6=J  | last7=Chen  | first7=J  | last8=Chow  | first8=B  | last9=Chui  | first9=C }}
*{{cite journal  | author=Manya H, Sakai K, Kobayashi K, ''et al.'' |title=Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. |journal=Biochem. Biophys. Res. Commun. |volume=306 |issue= 1 |pages= 93-7 |year= 2003 |pmid= 12788071 |doi=  }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | author=Akasaka-Manya K |title=Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1 |journal=Biochem. Biophys. Res. Commun. |volume=320 |issue= 1 |pages= 39–44 |year= 2004 |pmid= 15207699 |doi= 10.1016/j.bbrc.2004.05.129  |name-list-format=vanc| author2=Manya H  | author3=Kobayashi K  | display-authors=3  | last4=Toda  | first4=Tatsushi  | last5=Endo  | first5=Tamao }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Vervoort VS |title=POMGnT1 gene alterations in a family with neurological abnormalities |journal=Ann. Neurol. |volume=56 |issue= 1 |pages= 143–8 |year= 2004 |pmid= 15236414 |doi= 10.1002/ana.20172  |name-list-format=vanc| author2=Holden KR  | author3=Ukadike KC  | display-authors=3  | last4=Collins  | first4=Julianne S.  | last5=Saul  | first5=Robert A.  | last6=Srivastava  | first6=Anand K. }}
*{{cite journal | author=Akasaka-Manya K, Manya H, Kobayashi K, ''et al.'' |title=Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. |journal=Biochem. Biophys. Res. Commun. |volume=320 |issue= 1 |pages= 39-44 |year= 2004 |pmid= 15207699 |doi= 10.1016/j.bbrc.2004.05.129 }}
*{{cite journal  | author=Diesen C |title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= e115 |year= 2005 |pmid= 15466003 |doi= 10.1136/jmg.2004.020701  | pmc=1735594  |name-list-format=vanc| author2=Saarinen A  | author3=Pihko H  | display-authors=3  | last4=Rosenlew  | first4=C  | last5=Cormand  | first5=B  | last6=Dobyns  | first6=WB  | last7=Dieguez  | first7=J  | last8=Valanne  | first8=L  | last9=Joensuu  | first9=T }}
*{{cite journal | author=Vervoort VS, Holden KR, Ukadike KC, ''et al.'' |title=POMGnT1 gene alterations in a family with neurological abnormalities. |journal=Ann. Neurol. |volume=56 |issue= 1 |pages= 143-8 |year= 2004 |pmid= 15236414 |doi= 10.1002/ana.20172 }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Diesen C, Saarinen A, Pihko H, ''et al.'' |title=POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. |journal=J. Med. Genet. |volume=41 |issue= 10 |pages= e115 |year= 2005 |pmid= 15466003 |doi= 10.1136/jmg.2004.020701 }}
*{{cite journal  | author=Kimura K |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406  | pmc=1356129  |name-list-format=vanc| author2=Wakamatsu A  | author3=Suzuki Y  | display-authors=3  | last4=Ota  | first4=T  | last5=Nishikawa  | first5=T  | last6=Yamashita  | first6=R  | last7=Yamamoto  | first7=J  | last8=Sekine  | first8=M  | last9=Tsuritani  | first9=K }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Gregory SG |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727  |name-list-format=vanc| author2=Barlow KF  | author3=McLay KE  | display-authors=3  | last4=Kaul  | first4=R.  | last5=Swarbreck  | first5=D.  | last6=Dunham  | first6=A.  | last7=Scott  | first7=C. E.  | last8=Howe  | first8=K. L.  | last9=Woodfine  | first9=K. }}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  |vauthors=Abbott KL, Troupe K, Lee I, Pierce M |title=Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2837–50 |year= 2006 |pmid= 16857188 |doi= 10.1016/j.yexcr.2006.05.022 }}
*{{cite journal | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal  | author=Abbott KL, Troupe K, Lee I, Pierce M |title=Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb. |journal=Exp. Cell Res. |volume=312 |issue= 15 |pages= 2837-50 |year= 2006 |pmid= 16857188 |doi= 10.1016/j.yexcr.2006.05.022 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1291/  GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview]
 
 
{{gene-1-stub}}

Latest revision as of 18:27, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[1][2]


Function

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[3]

References

  1. ↑ Zhang W, Betel D, Schachter H (Dec 2001). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". Biochem J. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
  2. ↑ "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
  3. ↑ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.

Further reading

External links


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