Preferred Label : SLC3A1 wt Allele;
NCIt synonyms : Amino Acid Transporter 1 Gene; Solute Carrier Family 3, Member 1 Gene; NBAT; ATR1; Solute Carrier Family 3 (Cystine, Dibasic and Neutral Amino Acid Transporters, Activator
of Cystine, Dibasic and Neutral Amino Acid Transport), Member 1 Gene; FLJ34681; RBAT; CSNU1; D2H; Solute Carrier Family 3 (Cystine, Dibasic and Neutral Amino Acid Transporters), Member
1 Gene; Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 1 wt Allele;
NCIt definition : Human SLC3A1 wild-type allele is located in the vicinity of 2p16.3 and is approximately
46 kb in length. This allele, which encodes neutral and basic amino acid transport
protein rBAT, plays a role in the regulation of amino acid transport. Mutation of
the gene is associated with cystinuria type 1 and hypotonia-cystinuria syndrome.;
GenBank Accession Number : NM_000341;
Origin ID : C94689;
UMLS CUI : C2986630;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
