Entrez gene ID | | 79628 |
Official gene symbol | | SH3TC2 |
Full name | | SH3 domain and tetratricopeptide repeats 2 |
Aliases | | ,CMT4C,FLJ13605,KIAA1985,MNMN, |
Gene 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] |
Location | | Chromosome: 5 Locus: 5q32 |
Gene position | | 148442737 - 148361713 Map Viewer |
Gene orientation | | minus |
Gene size | | 81025 bp |
Gene sequence |
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OMIM ID | | 608206 |