SLC24A4 wt Allele

Preferred Label : SLC24A4 wt Allele;

NCIt synonyms : NCKX4; SHEP6; SLC24A2; AI2A5; Solute Carrier Family 24 Member 4 wt Allele; Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 4 Gene;

NCIt definition : Human SLC24A4 wild-type allele is located in the vicinity of 14q32.12 and is approximately 179 kb in length. This allele, which encodes sodium/potassium/calcium exchanger 4 protein, plays a role in ion antiporter activity. Mutation of the gene is associated with hypomaturation type IIA5 amelogenesis imperfecta.;

NCI Metathesaurus CUI : CL970817;

GenBank Accession Number : AF520704;

Details

Origin ID

C162363;

UMLS CUI

C5202777;

Automatic exact mappings (from CISMeF team)
- Amelogenesis imperfecta, hypomaturation type, iia5 [OMIM Phenotype]
- Skin-Hair-Eye Pigmentation, Variation In, 6 [MeSH Supplementary Concept]
- Skin/hair/eye pigmentation, variation in, 6 [OMIM Phenotype]
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 [OMIM gene]
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 [OMIM gene]
- amelogenesis imperfecta hypomaturation type 2A5 [DO Concept]
- solute carrier family 24 member 4 [ORDO Gene]
OMIM relation
- Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Olfactory Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Olfaction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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