Protein Domain : SH3 domain and tetratricopeptide repeat-containing protein SH3TC1/SH3TC2 IPR042772

Type  Family
Description  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.
Short Name  SH3TC1/SH3TC2

0 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

0 Parent Features

0 Publications

USDA
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