ABCC1

Chr 16AD

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

Also known as: ABC29, ABCC, DFNA77, GS-X, MRP, MRP1

NCBI Gene: 4363 ENSG00000103222 UniProt: P33527 OMIM: 158343

ABCC1 encodes an ATP-binding cassette transporter that exports organic anions, drugs, glutathione conjugates, and other molecules from cells. Mutations cause autosomal dominant deafness (DFNA77), though the gene shows very low constraint to loss-of-function variants (pLI 0.001, LOEUF 0.397), suggesting the associated phenotype may be uncommon or incompletely penetrant. The protein plays roles in drug resistance and inflammatory responses through export of various substrates including leukotriene C4.

OMIM ResearchSummary from RefSeq, OMIM, 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, autosomal dominant 77MIM #618915

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant nonsyndromic hearing loss · ADLimitednot for standalone diagnostic reporting

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

150

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.40

LOEUF

Multiple*

Mechanism· predicted