GDAP1

Ganglioside-induced differentiation-associated protein 1
Identifiers
Symbols	GDAP1 ;
External IDs	Template:OMIM5 Template:MGI HomoloGene: 40713
Gene ontology
RNA expression pattern
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

Ganglioside-induced differentiation-associated protein 1, also known as GDAP1, is a human gene.

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene.

Further reading

• Gauldie J, Bhandari SC, Singal DP (1976). "Alteration of the HL-A antigenic site in situ". Immunol. Commun. 4 (5): 465–76. PMID 54332.CS1 maint: Multiple names: authors list (link)
• Liu H, Nakagawa T, Kanematsu T; et al. (1999). "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". J. Neurochem. 72 (5): 1781–90. PMID 10217254.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brockington M, Blake DJ, Prandini P; et al. (2002). "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan". Am. J. Hum. Genet. 69 (6): 1198–209. PMID 11592034.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Baxter RV, Ben Othmane K, Rochelle JM; et al. (2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. 30 (1): 21–2. doi:10.1038/ng796. PMID 11743579.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cuesta A, Pedrola L, Sevilla T; et al. (2002). "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease". Nat. Genet. 30 (1): 22–5. doi:10.1038/ng798. PMID 11743580.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)
• Nelis E, Erdem S, Van Den Bergh PY; et al. (2003). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. 59 (12): 1865–72. PMID 12499475.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Senderek J, Bergmann C, Ramaekers VT; et al. (2003). "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy". Brain. 126 (Pt 3): 642–9. PMID 12566285.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boerkoel CF, Takashima H, Nakagawa M; et al. (2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. 53 (3): 400–5. doi:10.1002/ana.10505. PMID 12601710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Birouk N, Azzedine H, Dubourg O; et al. (2003). "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene". Arch. Neurol. 60 (4): 598–604. doi:10.1001/archneur.60.4.598. PMID 12707075.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Azzedine H, Ruberg M, Ente D; et al. (2003). "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene". Neuromuscul. Disord. 13 (4): 341–6. PMID 12868504.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ammar N, Nelis E, Merlini L; et al. (2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. 13 (9): 720–8. PMID 14561495.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stojkovic T, Latour P, Viet G; et al. (2004). "Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene". Neuromuscul. Disord. 14 (4): 261–4. doi:10.1016/j.nmd.2004.01.003. PMID 15019704.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)
• Pedrola L, Espert A, Wu X; et al. (2005). "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria". Hum. Mol. Genet. 14 (8): 1087–94. doi:10.1093/hmg/ddi121. PMID 15772096.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Claramunt R, Pedrola L, Sevilla T; et al. (2006). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. 42 (4): 358–65. doi:10.1136/jmg.2004.022178. PMID 15805163.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kabzińska D, Kochański A, Drac H; et al. (2006). "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease". J. Neurol. Sci. 241 (1–2): 7–11. doi:10.1016/j.jns.2005.10.002. PMID 16343542.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Biancheri R, Zara F, Striano P; et al. (2007). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. 253 (9): 1234–5. doi:10.1007/s00415-006-0149-4. PMID 16607474.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shield AJ, Murray TP, Board PG (2006). "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochem. Biophys. Res. Commun. 347 (4): 859–66. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173.CS1 maint: Multiple names: authors list (link)
• Baránková L, Vyhnálková E, Züchner S; et al. (2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. 17 (6): 482–9. doi:10.1016/j.nmd.2007.02.010. PMID 17433678.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)