ABCA2

Chr 9AR

ATP binding cassette subfamily A member 2

Also known as: ABC2, IDPOGSA

NCBI Gene: 20 ENSG00000107331 UniProt: Q9BZC7 OMIM: 600047

ABCA2 encodes an ATP-binding cassette transporter that regulates cholesterol homeostasis by modulating sphingolipid metabolism in late endosomes and lysosomes, and may play a role in myelin formation. Biallelic mutations cause autosomal recessive intellectual developmental disorder with poor growth and with or without seizures or ataxia. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with poor growth and with or without seizures or ataxiaMIM #618808

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· G2P