Biology:GDAP1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Ganglioside-induced differentiation-associated protein 1 is a type of protein that in humans is encoded by the GDAP1 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

• "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. 1999. doi:10.1046/j.1471-4159.1999.0721781.x. PMID 10217254. 
• "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. 2002. doi:10.1086/324412. PMID 11592034. 
• "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. 30 (1): 21–2. 2002. doi:10.1038/ng796. PMID 11743579. 
• "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. 2002. doi:10.1038/ng798. PMID 11743580. 
• "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology 59 (12): 1865–72. 2003. doi:10.1212/01.wnl.0000036272.36047.54. PMID 12499475. 
• "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. 2003. doi:10.1093/brain/awg068. PMID 12566285. 
• "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. 53 (3): 400–5. 2003. doi:10.1002/ana.10505. PMID 12601710. 
• "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. 2003. doi:10.1001/archneur.60.4.598. PMID 12707075. 
• "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. 2003. doi:10.1016/S0960-8966(02)00281-X. PMID 12868504. 
• "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. 13 (9): 720–8. 2003. doi:10.1016/S0960-8966(03)00093-2. PMID 14561495. 
• "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. 2004. doi:10.1016/j.nmd.2004.01.003. PMID 15019704. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "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. 2005. doi:10.1093/hmg/ddi121. PMID 15772096. 
• "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. 42 (4): 358–65. 2006. doi:10.1136/jmg.2004.022178. PMID 15805163. 
• "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. 2006. doi:10.1016/j.jns.2005.10.002. PMID 16343542. 
• "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. 253 (9): 1234–5. 2007. doi:10.1007/s00415-006-0149-4. PMID 16607474. 
• "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochem. Biophys. Res. Commun. 347 (4): 859–66. 2006. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173. 
• "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. 17 (6): 482–9. 2007. doi:10.1016/j.nmd.2007.02.010. PMID 17433678. 

External links

• Bird, Thomas D (30 January 2014). "Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 2. University of Washington, Seattle. NBK1285. https://www.ncbi.nlm.nih.gov/books/NBK1285/.  In Adam, M. P.; Everman, D. B.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/. 
• Bird, Thomas D (2013-09-26). "Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 4. University of Washington, Seattle. NBK1468. https://www.ncbi.nlm.nih.gov/books/NBK1468/.  In GeneReviews
• Züchner, Stephan; Vance, Jeffery M (2013-02-28). "GDAP1-Related Hereditary Motor and Sensory Neuropathy". Charcot-Marie-Tooth Neuropathy Type 4A. University of Washington, Seattle. NBK1539. https://www.ncbi.nlm.nih.gov/books/NBK1539/.  In GeneReviews