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SH3 domain and tetratricopeptide repeats 2 (HGNC Symbol)
Entrez 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, Jul 2008]
Q8TF17 [Direct mapping] SH3 domain and tetratricopeptide repeat-containing protein 2
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0022011 [myelination in peripheral nervous system] GO:0031410 [cytoplasmic vesicle] GO:0032287 [peripheral nervous system myelin maintenance] GO:0033157 [regulation of intracellular protein transport] GO:0055037 [recycling endosome] GO:1901184 [regulation of ERBB signaling pathway]