ERLIN2
Description
The ERLIN2 (ER lipid raft associated 2) is a protein-coding gene located on chromosome 8.
Erlin-2 is a protein that in humans is encoded by the ERLIN2 gene.
ERLIN2 forms a complex with ERLIN1 to regulate the degradation of inositol 1,4,5-trisphosphate receptors (IP3Rs) through the endoplasmic reticulum-associated degradation (ERAD) pathway. It also promotes the sterol-accelerated ERAD of HMGCR, likely involving an AMFR/gp78-containing ubiquitin ligase complex. ERLIN2 plays a role in maintaining cellular cholesterol homeostasis by regulating the SREBP signaling pathway and potentially promoting the ER retention of the SCAP-SREBF complex.
ERLIN2 is also known as C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B.
Associated Diseases
- Spastic paraplegia 18A, autosomal dominant
- Juvenile primary lateral sclerosis
- Spastic paraplegia 18, autosomal recessive
- Autosomal spastic paraplegia type 18
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
