Disease-gene associations mined from literature

Literature associating ERLIN1 and hereditary spastic paraplegia 18

ERLIN1 [ENSP00000410964]

Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex; Belongs to the band 7/mec-2 family.

Synonyms:  ERLIN1,  ERLIN1p,  hERLIN1,  B0QZ43,  D3DR65 ...

Linkouts:  STRING  Pharos  UniProt