ABCC8 wt Allele

Preferred Label : ABCC8 wt Allele;

NCIt synonyms : ATP Binding Cassette Subfamily C Member 8 wt Allele; SUR; PHHI; SUR1delta2; ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 Gene; HI; SUR1; HRINS; PNDM3; MRP8; TNDM2; ATP-Binding Cassette Transporter Sub-Family C Member 8 Gene; ABC36; ATP-Binding Cassette, Subfamily C, Member 8 Gene; Sulfonylurea Receptor, Beta Cell High Affinity Gene; Sulfonylurea Receptor (Hyperinsulinemia) Gene; HHF1;

NCIt definition : Human ABCC8 wild-type allele is located in the vicinity of 11p15.1 and is approximately 84 kb in length. This allele, which encodes ATP-binding cassette sub-family C member 8 protein, plays a role in the modulation of ATP-sensitive potassium channel activity and insulin release. Mutation of the gene is associated with leucine-sensitive hypoglycemia of infancy, familial hyperinsulinemic hypoglycemia 1, noninsulin-dependent diabetes mellitus, transient neonatal diabetes mellitus 2 and permanent neonatal diabetes mellitus 3, with or without neurologic features.;

NCI Metathesaurus CUI : CL1905127;

GenBank Accession Number : AF009746;

Details

Origin ID

C191884;

UMLS CUI

C5780963;

Automatic exact mappings (from CISMeF team)
- Congenital isolated hyperinsulinism [ORDO Disease]
- Harlequin ichthyosis [ORDO Disease]
OMIM relation
- Atp-binding cassette, subfamily D, member 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.1 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hormone Activity Induction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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