Literature associating ERLIN1 and hereditary spastic paraplegia 75
ERLIN1 [ENSP00000410964]
Erlin-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, O75477 ...