Overview:
AMSH (STAM binding protein) is a member of the JAMM metallo-enzyme family of deubiquitinating enzymes and is a ubiquitin isopeptidase found in the endosomes. It is involved in EGFR downregulation and regulates sorting of cell-surface receptors to the lysosome. The enzyme binds to the SH3 domain of STAM, which is required for MYC and cell growth (1). It has been hypothesized that mutations in AMSH are associated with Microcephaly-capillary malformation (2).
Gene Aliases:
STAMBP, MICCAP
Genbank Number:
NM_006463
References:
1. McCullough, John et al: AMSH is an endosome-associated ubiquitin isopeptidase. Journal of cell biology. vol. 166,4 (2004): 487-92.2. McDonell, Laura M et al: Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature genetics 45(5): 556-62, 2013.
