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SH3TC2 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.
Gene Name: | SH3 domain and tetratricopeptide repeats-containing protein 2 |
Synonyms: | SH3TC2 |
Target Sequences: | NP_078853.2 |
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