Gene Symbol | LRSAM1 |
Entrez Gene ID | 90678 |
Full Name | leucine rich repeat and sterile alpha motif containing 1 |
Synonyms | CMT2P,RIFLE,TAL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3) |