LRSAM1 Antibody – Rabbit Polyclonal

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]

LRSAM1: E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos. Defects in LRSAM1 are a cause of Charcot-Marie-Tooth disease type 2P (CMT2P). CMT2P is an axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Ubiquitin conjugating system; EC 6.3.2.19; Ubiquitin ligase; EC 6.3.2.-; Ligase

Chromosomal Location of Human Ortholog: 9q33.3

Cellular Component: cytoplasm; extracellular region; membrane

Molecular Function: hormone activity; ligase activity; protein binding; ubiquitin-protein ligase activity; zinc ion binding

Biological Process: autophagy; negative regulation of endocytosis; non-lytic virus budding; protein autoubiquitination; protein catabolic process; protein polyubiquitination

Disease: Charcot-marie-tooth Disease, Axonal, Type 2p