This entry includes SH3TC1 and SH3TC2. SH3TC2 is an effector of Rab11 in Schwann cells []. Mutations of the SH3TC2 gene cause Charcot-Marie-Tooth disease 4C (CMT4C), a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms []. The function of SH3TC1 is not clear.
