SLC7A7 wt Allele

Preferred Label : SLC7A7 wt Allele;

NCIt synonyms : y LAT-1; MOP-2; LAT3; Solute Carrier Family 7 (Cationic Amino Acid Transporter, y System), Member 7 Gene; y( )LAT1; Solute Carrier Family 7 (Amino Acid Transporter Light Chain, y L System), Member 7 wt Allele; Y LAT1; LPI;

NCIt definition : Human SLC7A7 wild-type allele is located in the vicinity of 14q11.2 and is approximately 57 kb in length. This allele, which encodes y L amino acid transporter 1 protein, is involved in cationic amino acid transport. Mutation of the gene is associated with lysinuric protein intolerance.;

GenBank Accession Number : AF092032;

Details

Origin ID

C118996;

UMLS CUI

C3889157;

Automatic exact mappings (from CISMeF team)
- Endothelial pas domain protein 1 [OMIM gene]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance [OMIM Phenotype]
- Lysinuric protein intolerance [ICD-11 More detail]
- Solute carrier family 43 (L-type amino acid transporter), member 1 [OMIM gene]
- Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 [OMIM gene]
- endothelial PAS domain protein 1 [ORDO Gene]
- lysinuric protein intolerance [DO Concept]
- solute carrier family 7 member 7 [ORDO Gene]
OMIM relation
- Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 [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_in_chromosomal_location
- 14q11.2 [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) :

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