Skip to content
GenoLensGenoLens

SCARB1

Chr 12q24.31

scavenger receptor class B member 1

Aliases:
SRB1, CLA-1, CLA1, SR-BI
MANE:
ENST00000261693.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown
  • Familial hypercholesterolaemia

  • Likely inborn error of metabolism

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • coronary artery disorder

    0.53
  • Alzheimer disease

    0.53
  • multiple sclerosis

    0.46
  • neurodegenerative disease

    0.46
  • lysosomal storage disease

    0.46
  • Parkinson disease

    0.46
  • Abnormality of skin pigmentation

    0.42
  • Hypercholesterolemia

    0.42
  • metabolic disease

    0.41
  • myocardial infarction

    0.41

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Scavenger receptor class B member 1

Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells (PubMed:12016218, PubMed:12519372, PubMed:21226579). Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux (PubMed:26965621). Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity (PubMed:12016218)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.