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SH3TC2

Official Full Name
SH3 domain and tetratricopeptide repeats 2
Organism
Homo sapiens
GeneID
79628
Background
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]
Synonyms
MNMN; CMT4C;

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