{"symbol":"SH3TC2","synonyms":["MNMN","CMT4C"],"name":"SH3 domain and tetratricopeptide repeats 2","description":"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]","ncbiEntrezGeneId":79628,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/79628","proteins":[{"symbol":"S3TC2_HUMAN","href":"/api/1.0/protein/S3TC2_HUMAN"}],"hgncRootFamilies":[{"name":"Tetratricopeptide repeat domain containing (TTC)","href":"/api/1.0/gene_family/Tetratricopeptide+repeat+domain+containing+%28TTC%29"}]}