SLC6A19 wt Allele

Preferred Label : SLC6A19 wt Allele;

NCIt synonyms : B0AT1; Solute Carrier Family 6 Member 19 wt Allele; HND; Solute Carrier Family 6 (Neutral Amino Acid Transporter), Member 19 Gene; Solute Carrier Family 6 (Neurotransmitter Transporter), Member 19 Gene; Hartnup Disease Gene;

NCIt definition : Human SLC6A19 wild-type allele is located in the vicinity of 5p15.33 and is approximately 24 kb in length. This allele, which encodes sodium-dependent neutral amino acid transporter B(0)AT1 protein, plays a role in epithelial cell uptake of neutral amino acids. Mutation of the gene is associated with iminoglycinuria, hyperglycinuria and Hartnup disorder.;

NCI Metathesaurus CUI : CL1648069;

GenBank Accession Number : AK096054;

Details

Origin ID

C178580;

UMLS CUI

C5551064;

Automatic exact mappings (from CISMeF team)
- Hartnup disorder [OMIM Phenotype]
OMIM relation
- Solute carrier family 6 (neurotransmitter transporter), member 19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p15.33 [NCIt concept]
gene_plays_role_in_process
- 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