GENE REFERENCE / HGNC:59

ABCC8

ATP binding cassette subfamily C member 8

protein-coding gene11p15.1Gene information

What does this gene do?

The ABCC8 gene provides instructions for making one part (subunit) of the ATP-sensitive potassium (KATP) channels that are found in specialized pancreas cells called beta cells. These KATP channels consist of eight subunits: four of these subunits are produced from the ABCC8 gene and four are produced from another gene called KCNJ11.

These KATP channels span the cell membranes of the beta cells. Beta cells secrete the hormone insulin, which helps control the levels of glucose in the blood, also called blood sugar. Glucose is a simple sugar and the primary energy source for most cells in the body. When blood glucose levels are high, the KATP channels close, which triggers the beta cells to release insulin into the bloodstream. In this way, KATP channels help regulate insulin secretion and control blood glucose levels.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-01-16. Source review: 2026-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
pulmonary arterial hypertensionMONDO:0015924 · Evaluated 2025-03-12	Autosomal dominant	ModeratePulmonary Hypertension Gene Curation Expert Panel
hyperinsulinismMONDO:0002177 · Evaluated 2026-01-20	Autosomal dominant	DefinitiveMonogenic Diabetes Gene Curation Expert Panel
hyperinsulinemic hypoglycemia, familial, 1MONDO:0009734 · Evaluated 2026-01-20	Autosomal recessive	DefinitiveMonogenic Diabetes Gene Curation Expert Panel
monogenic diabetesMONDO:0015967 · Evaluated 2022-07-24	Semidominant	DefinitiveMonogenic Diabetes Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 3,048
Submissions for variants in or overlapping this gene: 6,743
Submissions explicitly reporting this gene: 6,687
Alleles reported pathogenic / likely pathogenic: 567
VariationIDs with uncertain significance: 850
VariationIDs with conflicting classifications: 397

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ABCC8?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 567 alleles in ABCC8 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ABCC8.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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