LRRC8A wt Allele

Preferred Label : LRRC8A wt Allele;

NCIt synonyms : AGM5; Leucine Rich Repeat Containing 8 Family Member A Gene; SWELL1; FLJ10337; Leucine Rich Repeat Containing 8 VRAC Subunit A wt Allele; LRRC8; KIAA1437; Leucine Rich Repeat Containing 8 Gene;

NCIt definition : Human LRRC8A wild-type allele is located in the vicinity of 9q34.11 and is approximately 36 kb in length. This allele, which encodes volume-regulated anion channel subunit LRRC8A protein, plays a role in cellular homeostasis. Mutation of the gene is associated with autosomal dominant non-Bruton type agammaglobulinemia (agammaglobulinemia 5).;

NCI Metathesaurus CUI : CL1642435;

GenBank Accession Number : AB037858;

Details

Origin ID

C176555;

UMLS CUI

C5444198;

Automatic exact mappings (from CISMeF team)
- Agammaglobulinemia 5, autosomal dominant [OMIM Phenotype]
- Leucine-rich repeat-containing protein 8a [OMIM gene]
- leucine rich repeat containing 8 VRAC subunit A [ORDO Gene]
OMIM relation
- Leucine-rich repeat-containing protein 8a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.11 [NCIt concept]
gene_plays_role_in_process
- Cellular Stress Response [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Osmotic Activity [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients