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