SH3TC2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SH3TC2 wild-type allele is located in the vicinity of 5q32 and is approximately 140 kb in length. This allele, which encodes SH3 domain and tetratricopeptide repeat-containing protein 2, plays a role in receptor recycling. Mutations in the gene are associated with mild mononeuropathy of the median nerve and Charcot-Marie-Tooth disease type 4C.

**Synonyms:** - CMT4C - KIAA1985 - MNMN - PP12494 - SH3 Domain and Tetratricopeptide Domain 2 Gene - SH3 Domain and Tetratricopeptide Repeats 2 wt Allele