LRSAM1, Official Symbol LRSAM1provided by HGNC Official Full Name leucine rich repeat and sterile alpha motif containing 1provided by HGNC Primary source HGNC:HGNC:25135 See related Ensembl:ENSG00000148356 MIM:610933; AllianceGenome:HGNC:25135 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TAL; CMT2P; RIFLE 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] Expression Ubiquitous expression in skin (RPKM 9.6), bone marrow (RPKM 7.7) and 24 other tissues See more Orthologs mouse all