(Leucine Rich Repeat and Sterile alpha Motif Containing 1 (LRSAM1))
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012].
Bogdanik, Sleigh, Tian, Samuels, Bedard, Seburn, Burgess: "Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease." in: Disease models & mechanisms, Vol. 6, Issue 3, pp. 780-92, (2013) (PubMed).
Aliases for LRSAM1 抗体
leucine rich repeat and sterile alpha motif containing 1 (LRSAM1) 抗体 leucine rich repeat and sterile alpha motif containing 1 (Lrsam1) 抗体 CMT2P 抗体 RIFLE 抗体 TAL 抗体