ABCG1

Chr 21

ATP binding cassette subfamily G member 1

Also known as: ABC8, WHITE1

NCBI Gene: 9619 ENSG00000160179 UniProt: P45844

The ABCG1 protein is an ATP-binding cassette transporter that catalyzes the efflux of phospholipids, cholesterol, and oxygenated cholesterol derivatives from cells, serving as an active component of the macrophage lipid export complex. Mutations cause autosomal recessive cerebrotendinous xanthomatosis, a disorder characterized by progressive neurological deterioration, cataracts, and cholesterol deposition in tendons and brain. The gene is highly constrained against loss-of-function variants (LOEUF 0.461), reflecting its essential role in cellular lipid homeostasis.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

193

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)