SPFH2/ERLIN2 (ERLIN2) Antibody – Goat Polyclonal

This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

SPFH2: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway. Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination. Forms a heteromeric complex with ERLIN1. Ubiquitous. Belongs to the band 7/mec-2 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 8p11.2

Cellular Component: cytoplasm; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; lipid raft; plasma membrane; protein complex

Molecular Function: cholesterol binding; protein binding; protein-tyrosine kinase activity; ubiquitin protein ligase binding

Biological Process: cholesterol metabolic process; ER-associated protein catabolic process; negative regulation of cholesterol biosynthetic process; negative regulation of fatty acid biosynthetic process; peptidyl-tyrosine phosphorylation; SREBP-mediated signaling pathway

Disease: Spastic Paraplegia 18, Autosomal Recessive