SLC13A5 wt Allele

Preferred Label : SLC13A5 wt Allele;

NCIt synonyms : Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter), Member 5 Gene; INDY; Solute Carrier Family 13 Member 5 wt Allele; NACT; EIEE25; mIndy; DEE25;

NCIt definition : Human SLC13A5 wild-type allele is located in the vicinity of 17p13.1 and is approximately 29 kb in length. This allele, which encodes Na( )/citrate cotransporter protein, is involved in citrate transport. Mutation of the gene is associated with developmental and epileptic encephalopathy 25, with amelogenesis imperfecta.;

NCI Metathesaurus CUI : CL1799305;

GenBank Accession Number : AJ489980;

Details

Origin ID

C190842;

UMLS CUI

C5781196;

OMIM relation
- Solute carrier family 13 (sodium-dependent citrate transporter), member 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [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