SLC46A1 wt Allele

Preferred Label : SLC46A1 wt Allele;

NCIt synonyms : Solute Carrier Family 46 (Folate Transporter), Member 1 wt Allele; HCP1; PCFT; MGC9564; G21; PCFT/HCP1; hPCFT; HsPCFT;

NCIt definition : Human SLC46A1 wild-type allele is located in the vicinity of 17q11.2 and is approximately 13 kb in length. This allele, which encodes proton-coupled folate transporter protein, is involved in transport of both folate and antifolate across the plasma membrane, and heme transport in duodenal enterocytes. Mutations in this gene are associated with hereditary folate malabsorption.;

GenBank Accession Number : NM_080669;

Details

Origin ID

C107467;

UMLS CUI

C3810555;

Automatic exact mappings (from CISMeF team)
- Phosphodiesterase 7a [OMIM gene]
- Solute carrier family 46 (folate transporter), member 1 [OMIM gene]
- centromere protein F [ORDO Gene]
- solute carrier family 46 member 1 [ORDO Gene]
OMIM relation
- Solute carrier family 46 (folate transporter), member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Folic Acid 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