(Leucine Rich Repeat and Sterile alpha Motif Containing 1 (LRSAM1))
Catégories
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].
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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." dans: Disease models & mechanisms, Vol. 6, Issue 3, pp. 780-92, (2013) (PubMed).
Synonymes et noms alternatifs relatifs à LRSAM1
leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), leucine rich repeat and sterile alpha motif containing 1 (Lrsam1), CMT2P, RIFLE, TAL
Protein level used designations for LRSAM1
E3 ubiquitin-protein ligase LRSAM1
Tsg101-associated ligase
leucine-rich repeat and sterile alpha motif-containing protein 1