SLC52A3 wt Allele

Preferred Label : SLC52A3 wt Allele;

NCIt synonyms : RFT2; Chromosome 20 Open Reading Frame 54 Gene; Solute Carrier Family 52 (Riboflavin Transporter), Member 3 Gene; Hypothetical Protein LOC113278 Gene; hRFT2; Solute Carrier Family 52, Riboflavin Transporter, Member 3 Gene; RFVT3; C20orf54; Solute Carrier Family 52 Member 3 wt Allele; BVVLS1; bA371L19.1; BVVLS;

NCIt definition : Human SLC52A3 wild-type allele is located in the vicinity of 20p13 and is approximately 20 kb in length. This allele, which encodes solute carrier family 52, riboflavin transporter, member 3 protein, plays a role in vitamin B2 transport. Mutation of the gene is associated with Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease.;

NCI Metathesaurus CUI : CL1905155;

GenBank Accession Number : AL118502;

Details

Origin ID

C191789;

UMLS CUI

C5780776;

OMIM relation
- Solute carrier family 52 (riboflavin transporter), member 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_plays_role_in_process
- Gastrointestinal Absorption Induction [NCIt concept]
- Hearing [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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