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]

Description

leucine rich repeat and sterile alpha motif containing 1

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

9 (127451486 - 127503501)

Ensembl ID

ENSG00000148356  (ver. 98.38)

Orthologs

Mouse Lrsam1: ENSMUSG00000026792

UniProt

Q6UWE0

neXtProt

NX_Q6UWE0

Human splice variants
Mouse splice variants