Gene Symbol | GDAP1 |
Entrez Gene ID | 54332 |
Full Name | ganglioside induced differentiation associated protein 1 |
Synonyms | CMT4,CMT4A,CMTRIA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 4A, 214400 (3); Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3); Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3); Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) |