LP34966-9
ABCC8 gene
Active
Description
The ABCC8 gene (ATP-binding cassette, sub-family C (CFTR/MRP), member 8) [HGNC Gene ID:59] is located on chromosome 11p15.1. 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 and deficiencies in this 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, Dec 2013] [NCBI Gene ID:6833] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- ABCC8 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-03
- Construct for LOINC Short Name
- ABCC8 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ABCC8 基因 Synonyms: ABC36; |
| et-EE | Estonian (Estonia) | ABCC8 geen |
| es-ES | Spanish (Spain) | Gen ABCC8 |
| it-IT | Italian (Italy) | ABCC8, gene Synonyms: Gene ABCC8 |
| tr-TR | Turkish (Turkey) | ABCC8 geni |
| ru-RU | Russian (Russian Federation) | ABCC8 ген |
| nl-NL | Dutch (Netherlands) | ABCC8-gen Synonyms: ABCC8 gen |
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