PHF6

PHD finger protein 6
Identifiers
Symbols	PHF6 ; BORJ; MGC14797
External IDs	Template:OMIM5 Template:MGI HomoloGene: 12375
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PHF6 gnf1h00721 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

PHD finger protein 6, also known as PHF6, is a human gene.

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Further reading

• Nagase T, Nakayama M, Nakajima D; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. PMID 11347906.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lower KM, Turner G, Kerr BA; et al. (2003). "Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome". Nat. Genet. 32 (4): 661–5. doi:10.1038/ng1040. PMID 12415272.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Baumstark A, Lower KM, Sinkus A; et al. (2003). "Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome". J. Med. Genet. 40 (4): e50. PMID 12676923.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. PMID 14714741.
• Birrell G, Lampe A, Richmond S; et al. (2004). "Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency". J. Pediatr. Endocrinol. Metab. 16 (9): 1295–300. PMID 14714754.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Turner G, Lower KM, White SM; et al. (2004). "The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations". Clin. Genet. 65 (3): 226–32. PMID 14756673.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lower KM, Solders G, Bondeson ML; et al. (2005). "1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family". Eur. J. Hum. Genet. 12 (10): 787–9. doi:10.1038/sj.ejhg.5201228. PMID 15241480.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vallée D, Chevrier E, Graham GE; et al. (2005). "A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome". J. Med. Genet. 41 (10): 778–83. doi:10.1136/jmg.2004.020370. PMID 15466013.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andersen JS, Lam YW, Leung AK; et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ross MT, Grafham DV, Coffey AJ; et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Crawford J, Lower KM, Hennekam RC; et al. (2006). "Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient". J. Med. Genet. 43 (3): 238–43. doi:10.1136/jmg.2005.033084. PMID 15994862.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• PHF6+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.