Gene Symbol | SH3TC2 |
Entrez Gene ID | 79628 |
Full Name | SH3 domain and tetratricopeptide repeats 2 |
Synonyms | CMT4C,MNMN |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of the median nerve, mild, 613353 (3) |