SCAP Chromosome 3
SREBF chaperone
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What This Gene Does
This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114650
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202080098 | Health Risk | Conflicting classifications of pathogenicity | — |