GDAP1
| Ganglioside induced differentiation associated protein 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | GDAP1 ; CMT4; CMT4A; CMTRIA | ||||||||||||
| External IDs | OMIM: 606598 MGI: 1338002 HomoloGene: 40713 GeneCards: GDAP1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 54332 | 14545 | |||||||||||
| Ensembl | ENSG00000104381 | ENSMUSG00000025777 | |||||||||||
| UniProt | Q8TB36 | O88741 | |||||||||||
| RefSeq (mRNA) | NM_001040875 | NM_010267 | |||||||||||
| RefSeq (protein) | NP_001035808 | NP_034397 | |||||||||||
| Location (UCSC) |
Chr 8: 74.32 – 74.49 Mb |
Chr 1: 17.15 – 17.16 Mb | |||||||||||
| PubMed search | |||||||||||||
Ganglioside-induced differentiation-associated protein 1 is a protein that in humans is encoded by the GDAP1 gene.[1][2]
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.[2]
References
- ↑ 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.
- 1 2 "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.
- 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.
- 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.
- 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. 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
External links
- Bird, Thomas D (30 January 2014). Charcot-Marie-Tooth Neuropathy Type 2. PMID 20301462. NBK1285. In Pagon RA, Bird TD, Dolan CR; et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in:
|date=(help) - Bird, Thomas D (2013-09-26). Charcot-Marie-Tooth Neuropathy Type 4. NBK1468. In GeneReviews
- Züchner, Stephan; Vance, Jeffery M (2013-02-28). Charcot-Marie-Tooth Neuropathy Type 4A. NBK1539. In GeneReviews
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