GDAP1

GDAP1
Identifiers
Aliases	GDAP1 , CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1
External IDs	OMIM: 606598; MGI: 1338002; HomoloGene: 40713; GeneCards: GDAP1; OMA:GDAP1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8q21.11 Start 74,320,613 bp [1] End 74,518,007 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 A3 Start 17,215,586 bp [2] End 17,234,495 bp [2]
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 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ganglioside-induced differentiation-associated protein 1 is a type of protein that in humans is encoded by the GDAP1 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000104381 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025777 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID   54332.
6. "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".

Further reading

• 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. doi:10.1046/j.1471-4159.1999.0721781.x. PMID   10217254. S2CID   8214053.
• 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. doi:10.1086/324412. PMC   1235559 . PMID   11592034.
• 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. S2CID   11340817.
• 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. S2CID   1120901.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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. doi:10.1212/01.wnl.0000036272.36047.54. PMID   12499475. S2CID   34484332.
• 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. doi: 10.1093/brain/awg068 . PMID   12566285.
• 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. S2CID   28683764.
• 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.
• 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. doi:10.1016/S0960-8966(02)00281-X. PMID   12868504. S2CID   28668205.
• 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. doi:10.1016/S0960-8966(03)00093-2. PMID   14561495. S2CID   22727918.
• 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. S2CID   28092053.
• 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. PMC   528928 . PMID   15489334.
• 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.
• 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. PMC   1736030 . PMID   15805163.
• 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. S2CID   11433631.
• 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. 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". Biochem. Biophys. Res. Commun. 347 (4): 859–66. doi:10.1016/j.bbrc.2006.06.189. PMID   16857173.
• 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. S2CID   29318571.

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. PMID   20301462. NBK1285. In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. PMID   20301295.
• 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. PMID   20301641. 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. PMID   20301711. NBK1539. In GeneReviews