ABCC1
Chr 16ADATP binding cassette subfamily C member 1 (ABCC1 blood group)
Also known as: ABC29, ABCC, DFNA77, GS-X, MRP, MRP1
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.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ABCC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Treating Breast Cancer Patients Undergoing Trastuzumab Treatment With Carvedilol to Reduce Incidence of Heart Failure
ACTIVE NOT RECRUITINGPrecision Medicine in the Treatment of Epilepsy
RECRUITINGMultidrug Resistance Genes in Patients With Acute Myeloid Leukemia
ACTIVE NOT RECRUITINGCelecoxib Plus R-CHOP vs R-CHOP in Newly Diagnosed Advanced CD5+ DLBCL
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools