ERLIN2 Human
Description
Product Specs
MGSSHHHHHH SSGLVPRGSH MGSKIEEGHI GVYYRGGALL TSTSGPGFHL MLPFITSYKS VQTTLQTDEV KNVPCGTSGG VMIYFDRIEV VNFLVPNAVY DIVKNYTADY DKALIFNKIH HELNQFCSVH TLQEVYIELF DQIDENLKLA LQQDLTSMAP GLVIQAVRVT KPNIPEAIRR NYELMESEKT KLLIAAQKQK VVEKEAETER KKALIEAEKV AQVAEITYGQ KVMEKETEKK ISEIEDAAFL AREKAKADAE CYTAMKIAEA NKLKLTPEYL QLMKYKAIAS NSKIYFGKDI PNMFMDSAGS VSKQFEGLAD KLSFGLEDEP LETATKEN.
Product Science Overview
The ERLIN2 gene is located on chromosome 8 and encodes a protein that is involved in several cellular processes. The protein is a component of the ERLIN1/ERLIN2 complex, which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 . This complex is also implicated in the regulation of cellular cholesterol homeostasis by regulating the SREBP signaling pathway .
ERLIN2 is involved in the regulation of cellular cholesterol homeostasis and promotes sterol-accelerated ERAD of HMG-CoA reductase (HMGCR), likely involving an AMFR/gp78-containing ubiquitin ligase complex . Additionally, ERLIN2 may promote ER retention of the SCAP-SREBF complex, which is crucial for cholesterol metabolism .
Mutations in the ERLIN2 gene are associated with spastic paraplegia-18 (SPG18), a neurodegenerative disorder characterized by progressive weakness and spasticity of the lower limbs . The gene has also been identified as a candidate oncogene within the 8p11-12 amplicon in human breast cancer, particularly in the luminal subtype . Overexpression of ERLIN2 has been shown to facilitate the adaptation of breast epithelial cells to ER stress, supporting cell growth and protecting cells from ER stress-induced cell death .
Research on ERLIN2 has provided insights into its role in various cellular processes and its potential implications in diseases. Studies have demonstrated that ERLIN2 is a novel oncogenic factor associated with the ER stress response pathway . The protein’s involvement in cholesterol homeostasis and ERAD makes it a potential target for therapeutic interventions in diseases related to cholesterol metabolism and ER stress.
