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Immunogen sequence: SVLSFLYDKK YLPHLAVASV QQHGIQSAQG MSLPIWQVHL VLQNTTKLLG FPSPGWGEVS ALACPMLRQA LAACEELADR STQRALCLIL SKVYLEHRSP DGAIHYLSQ
Highest antigen sequence identity to the following orthologs: Mouse - 75%, Rat - 72%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: SH3 domain and tetratricopeptide repeat-containing protein 2; SH3 domain and tetratricopeptide repeats-containing protein 2
Gene Aliases: CMT4C; KIAA1985; MNMN; PP12494; SH3TC2
UniProt ID: (Human) Q8TF17
Entrez Gene ID: (Human) 79628
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