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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.
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Protein Aliases: SH3 domain and tetratricopeptide repeat-containing protein 2; SH3 domain and tetratricopeptide repeats-containing protein 2
Gene Aliases: CMT4C; D430044G18Rik; KIAA1985; MNMN; PP12494; RGD1309038; SH3TC2
UniProt ID: (Human) Q8TF17, (Mouse) Q80VA5
Entrez Gene ID: (Human) 79628, (Mouse) 225608, (Rat) 307393
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