ERLIN1

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Description

The ERLIN1 (ER lipid raft associated 1) is a protein-coding gene located on chromosome 10.

Erlin-1 is a protein that is encoded by the ERLIN1 gene in humans.

Erlin-1 forms a complex with Erlin-2, which is involved in the degradation of inositol 1,4,5-trisphosphate receptors (IP3Rs) through the endoplasmic reticulum-associated degradation (ERAD) pathway. It plays a role in regulating cholesterol homeostasis by influencing the SREBP signaling pathway. Erlin-1 directly binds cholesterol and may promote the retention of the SCAP-SREBF complex within the endoplasmic reticulum.

ERLIN1 is also known as C10orf69, Erlin-1, KE04, KEO4, SPFH1, SPG62.

Associated Diseases

• Autosomal recessive spastic paraplegia type 62
• Spastic paraplegia 62, autosomal recessive