Aliases for SH3TC2 Gene
External Ids for SH3TC2 Gene
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]
GeneCards Summary for SH3TC2 Gene
SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) is a Protein Coding gene. Diseases associated with SH3TC2 include mononeuropathy of the median nerve, mild and mononeuropathy. An important paralog of this gene is SH3TC1.