Version 2.77

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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34966-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34966-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ABCC8 基因
Synonyms: ABC36;ATP 结合盒, 亚家族 C (CFTR/MRP), 成员 8;ATP 结合盒, 子家族 C (CFTR/MRP), 成员 8;HI;HRINS;MRP8;PHHI;SUR;SUR1;三磷酸腺苷结合盒, 亚家族 C (CFTR/MRP), 成员 8;三磷酸腺苷结合盒, 子家族 C (CFTR/MRP), 成员 8;磺胺尿素受体1;磺酰脲受体1;腺苷三磷酸结合盒, 亚家族 C (CFTR/MRP), 成员 8;腺苷三磷酸结合盒, 子家族 C (CFTR/MRP), 成员 8;血胰岛素增多;高胰岛
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