GDAP1 explained

Ganglioside-induced differentiation-associated protein 1 is a type of 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.

Further reading

• Liu H, Nakagawa T, Kanematsu T . 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 . 10217254 . 10.1046/j.1471-4159.1999.0721781.x . 8214053 . etal.
• Brockington M, Blake DJ, Prandini P . 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 . 11592034 . 10.1086/324412 . 1235559 . etal.
• Baxter RV, Ben Othmane K, Rochelle JM . Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 . Nat. Genet. . 30 . 1 . 21–2 . 2002 . 11743579 . 10.1038/ng796 . 11340817 . etal.
• Cuesta A, Pedrola L, Sevilla T . 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 . 11743580 . 10.1038/ng798 . 1120901 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Nelis E, Erdem S, Van Den Bergh PY . Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy . Neurology . 59 . 12 . 1865–72 . 2003 . 12499475 . 10.1212/01.wnl.0000036272.36047.54. 34484332 . etal.
• Senderek J, Bergmann C, Ramaekers VT . 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 . 12566285 . 10.1093/brain/awg068 . etal. free .
• Boerkoel CF, Takashima H, Nakagawa M . CMT4A: identification of a Hispanic GDAP1 founder mutation . Ann. Neurol. . 53 . 3 . 400–5 . 2003 . 12601710 . 10.1002/ana.10505 . 28683764 . etal.
• Birouk N, Azzedine H, Dubourg O . 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 . 12707075 . 10.1001/archneur.60.4.598 . etal. free .
• Azzedine H, Ruberg M, Ente D . 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 . 12868504 . 10.1016/S0960-8966(02)00281-X . 28668205 . etal.
• Ammar N, Nelis E, Merlini L . Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease . Neuromuscul. Disord. . 13 . 9 . 720–8 . 2003 . 14561495 . 10.1016/S0960-8966(03)00093-2 . 22727918 . etal.
• Stojkovic T, Latour P, Viet G . 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 . 15019704 . 10.1016/j.nmd.2004.01.003 . 28092053 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Pedrola L, Espert A, Wu X . 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 . 15772096 . 10.1093/hmg/ddi121 . etal. free .
• Claramunt R, Pedrola L, Sevilla T . Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect . J. Med. Genet. . 42 . 4 . 358–65 . 2006 . 15805163 . 10.1136/jmg.2004.022178 . 1736030 . etal.
• Kabzińska D, Kochański A, Drac H . 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 . 16343542 . 10.1016/j.jns.2005.10.002 . 11433631 . etal.
• Biancheri R, Zara F, Striano P . GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features . J. Neurol. . 253 . 9 . 1234–5 . 2007 . 16607474 . 10.1007/s00415-006-0149-4 . 11567/314987 . 1418015 . etal.
• Shield AJ, Murray TP, Board PG . Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase . Biochem. Biophys. Res. Commun. . 347 . 4 . 859–66 . 2006 . 16857173 . 10.1016/j.bbrc.2006.06.189 .
• Baránková L, Vyhnálková E, Züchner S . GDAP1 mutations in Czech families with early-onset CMT . Neuromuscul. Disord. . 17 . 6 . 482–9 . 2007 . 17433678 . 10.1016/j.nmd.2007.02.010 . 29318571 . etal.

External links

• Book: Bird, Thomas D . Charcot-Marie-Tooth Neuropathy Type 2 . Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY . NBK1285 . 30 January 2014 . University of Washington, Seattle . 20301462 . In Book: Pagon RA, Bird TD, Dolan CR . GeneReviews [Internet] ]. 1993 . University of Washington, Seattle . Seattle WA . 20301295 . . etal. Adam . M. P. . Everman . D. B. . Mirzaa . G. M. . Pagon . R. A. . Wallace . S. E. . Bean LJH . Gripp . K. W. . Amemiya . A. .
• Book: Bird, Thomas D . 2013-09-26 . Charcot-Marie-Tooth Neuropathy Type 4 . Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY . University of Washington, Seattle . 20301641 . NBK1468 . In
• Book: Stephan . Züchner . Jeffery M . Vance . 2013-02-28 . Charcot-Marie-Tooth Neuropathy Type 4A . GDAP1-Related Hereditary Motor and Sensory Neuropathy . University of Washington, Seattle . 20301711 . NBK1539 . In

Notes and References

1. Gauldie J, Bhandari SC, Singal DP . Alteration of the HL-A antigenic site in situ . Immunol Commun . 4 . 5 . 465–76 . Apr 1976 . 54332 . 10.3109/08820137509057334.
2. Web site: Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1.