SH3TC2, Official Symbol SH3TC2provided by HGNC Official Full Name SH3 domain and tetratricopeptide repeats 2provided by HGNC Primary source HGNC:HGNC:29427 See related Ensembl:ENSG00000169247 MIM:608206; AllianceGenome:HGNC:29427 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MNMN; CMT4C 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] Expression Biased expression in testis (RPKM 1.4), brain (RPKM 0.6) and 6 other tissues See more Orthologs mouse all