ERLIN1/2 Polyclonal Antibody from MyBioSource.com

ERLIN1 (ER Lipid Raft Associated 1) is a Protein Coding gene. Diseases associated with ERLIN1 include Hereditary Spastic Paraplegia 62 and Spastic Paraplegia 62. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is ERLIN2.The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1, 4, 5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. ERLIN2 (ER Lipid Raft Associated 2) is a Protein Coding gene. Diseases associated with ERLIN2 include Spastic Paraplegia 18, Autosomal Recessive and Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and FGFR1 mutant receptor activation. An important paralog of this gene is ERLIN1.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