GDAP1

GDAP1
Identifiers
Aliases	GDAP1, CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1
External IDs	OMIM: 606598; MGI: 1338002; GeneCards: GDAP1
Gene location (Human) Chr. Chromosome 8 (human) Band 8q21.11 Start 74,320,613 bp End 74,518,007 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 A3 Start 17,215,586 bp End 17,234,495 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell secondary oocyte Brodmann area 23 cerebellar vermis postcentral gyrus entorhinal cortex pons middle temporal gyrus pars compacta superior frontal gyrus Top expressed in barrel cortex substantia nigra zygote ventral tegmental area medial vestibular nucleus pontine nuclei secondary oocyte dorsal tegmental nucleus habenula primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glutathione transferase activity Cellular component integral component of membrane mitochondrial outer membrane integral component of mitochondrial outer membrane membrane mitochondrion nucleus cytoplasm cytosol Biological process mitochondrial fusion protein targeting to mitochondrion response to retinoic acid mitochondrial fission cellular response to vitamin D glutathione metabolic process mitochondrion organization Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 54332 14545 Ensembl ENSG00000104381 ENSMUSG00000025777 UniProt Q8TB36 O88741 RefSeq (mRNA) NM_001040875 NM_018972 NM_001362929 NM_001362930 NM_001362931 NM_001362932 NM_010267 RefSeq (protein) NP_001035808 NP_061845 NP_001349858 NP_001349859 NP_001349860 NP_001349861 NP_034397 Location (UCSC) Chr 8: 74.32 – 74.52 Mb Chr 1: 17.22 – 17.23 Mb PubMed search
Wikidata
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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

• Liu H, Nakagawa T, Kanematsu T, Uchida T, Tsuji S (May 1999). "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". Journal of Neurochemistry. 72 (5): 1781–1790. doi:10.1046/j.1471-4159.1999.0721781.x. PMID 10217254. S2CID 8214053.
• Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, et al. (December 2001). "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". American Journal of Human Genetics. 69 (6): 1198–1209. doi:10.1086/324412. PMC 1235559. PMID 11592034.
• Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. (January 2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nature Genetics. 30 (1): 21–22. doi:10.1038/ng796. PMID 11743579. S2CID 11340817.
• Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, et al. (January 2002). "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease". Nature Genetics. 30 (1): 22–25. doi:10.1038/ng798. PMID 11743580. S2CID 1120901.
• Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, et al. (December 2002). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. 59 (12): 1865–1872. doi:10.1212/01.wnl.0000036272.36047.54. PMID 12499475. S2CID 34484332.
• Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, et al. (March 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): 642–649. doi:10.1093/brain/awg068. PMID 12566285.
• Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, et al. (March 2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Annals of Neurology. 53 (3): 400–405. doi:10.1002/ana.10505. PMID 12601710. S2CID 28683764.
• Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, et al. (April 2003). "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene". Archives of Neurology. 60 (4): 598–604. doi:10.1001/archneur.60.4.598. PMID 12707075.
• Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, et al. (May 2003). "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene". Neuromuscular Disorders. 13 (4): 341–346. doi:10.1016/S0960-8966(02)00281-X. PMID 12868504. S2CID 28668205.
• Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, et al. (November 2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscular Disorders. 13 (9): 720–728. doi:10.1016/S0960-8966(03)00093-2. PMID 14561495. S2CID 22727918.
• Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, et al. (April 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". Neuromuscular Disorders. 14 (4): 261–264. doi:10.1016/j.nmd.2004.01.003. PMID 15019704. S2CID 28092053.
• Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F (April 2005). "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria". Human Molecular Genetics. 14 (8): 1087–1094. doi:10.1093/hmg/ddi121. PMID 15772096.
• Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, et al. (April 2005). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". Journal of Medical Genetics. 42 (4): 358–365. doi:10.1136/jmg.2004.022178. PMC 1736030. PMID 15805163.
• Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, et al. (February 2006). "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease". Journal of the Neurological Sciences. 241 (1–2): 7–11. doi:10.1016/j.jns.2005.10.002. PMID 16343542. S2CID 11433631.
• Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, et al. (September 2006). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". Journal of Neurology. 253 (9): 1234–1235. doi:10.1007/s00415-006-0149-4. hdl:11567/314987. PMID 16607474. S2CID 1418015.
• Shield AJ, Murray TP, Board PG (2006). "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochemical and Biophysical Research Communications. 347 (4): 859–866. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173.
• Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, et al. (June 2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscular Disorders. 17 (6): 482–489. doi:10.1016/j.nmd.2007.02.010. PMID 17433678. S2CID 29318571.

External links

• Bird TD (30 January 2014). "Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Gripp KW, Amemiya A, Bean L (eds.). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. PMID 20301462. NBK1285. In
• Bird TD (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. PMID 20301641. NBK1468. In GeneReviews
• Züchner S, Vance JM (2013-02-28). "GDAP1-Related Hereditary Motor and Sensory Neuropathy". Charcot-Marie-Tooth Neuropathy Type 4A. University of Washington, Seattle. PMID 20301711. NBK1539. In GeneReviews