ATP-Binding Cassette, Subfamily C, Member 8

Alternative Names

  • ABCC8
  • Sulfonylurea Receptor
  • SUR
  • SUR1
  • Sulfonylurea Receptor, Beta-Cell High-Affinity
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OMIM Number

600509

NCBI Gene ID

6833

Uniprot ID

Q09428

Length

84,348 bases

No. of Exons

38

No. of isoforms

3

Protein Name

ATP-binding cassette sub-family C member 8

Molecular Mass

176992 Da

Amino Acid Count

1581

Genomic Location

chr11:17,392,498-17,476,845

Gene Map Locus
11p15.1

Description

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 MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

Molecular Genetics

The ABCC8 gene has 39 coding exons spanning approximately84 kb, with alternatively spliced variants.  At least 300 mutations in the ABCC8 gene have been identifiedin patients with congenital hyperinsulinism, and more than 14 mutations have been found to cause permanent neonatal diabetes mellitus.  Mutations have also been associated with transient neonatal diabetes mellitus and an increased risk of type 2 diabetes mellitus.

Epidemiology in the Arab World

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Other Reports

Kuwait

Al Mutair et al. (2013) described 15 patients from eight unrelated consanguineous families from Saudi Arabia and Kuwait with congenital hyperinsulinism and deafness.  They analyzed the USH1C, ABCC8, and KCNJ11 genes by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers for the 15 patients.   A homozygous a 122.815-base pair deletion of USH1C exon 3–28 and ABCC8 exon 1–22, USH1C:c.(90+592)_ABCC8: c.(2694–528)del was found in all 10 patients with available DNA, and in the parents it was heterozygous.

Saudi Arabia

Al Mutair et al. (2013) described 15 patients from eight unrelated consanguineous families from Saudi Arabia and Kuwait with congenital hyperinsulinism and deafness.  They analyzed the USH1C, ABCC8, and KCNJ11 genes by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers for the 15 patients.   A homozygous a 122.815-base pair deletion of USH1C exon 3–28 and ABCC8 exon 1–22, USH1C:c.(90+592)_ABCC8: c.(2694–528)del was found in all 10 patients with available DNA, and in the parents it was heterozygous.

United Arab Emirates

Deeb et al. (2016) examined Neonatal Diabetes Mellitus (NDM) patients and characterized their genetic and clinical features. The authors found 25 cases of NDM in Abu Dhabi between the years 1985-2013, giving an incidence rate of 1:29,241 live births. Of these, 23 were Permanent Neonatal Diabetes Mellitus (PNDM) cases and 2 patients had Transient Neonatal Diabetes Mellitus (TNDM). Genetic analysis of this cohort identified a heterozygous H410Y ABCC8 variant in a 15-year-old male patient. The affected individual was born full term with a birth weight of 2.4 kg to a non-consanguineous family. He was diagnosed with NDM at 25 weeks. At 15 years of age he had normal growth and intelligence and was on insulin pump therapy of 1.3U/kg/day. His 45-year-old mother was a carrier for the variant and had glucose intolerance with HbA1c of 5.9% on diet control.       

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