Sh3tc2 - SH3 domain and tetratricopeptide repeats 2

Acts upstream of or within peripheral nervous system myelin maintenance; regulation of ERBB signaling pathway; and regulation of intracellular protein transport. Located in plasma membrane and recycling endosome. Is expressed in several structures, including brain; genitourinary system; submandibular gland; thymus; and trachea. Used to study Charcot-Marie-Tooth disease type 4C. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4C. Orthologous to human SH3TC2 (SH3 domain and tetratricopeptide repeats 2). [provided by Alliance of Genome Resources, Apr 2022]