SLC3A1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - ATR1 - Amino Acid Transporter 1 Gene - CSNU1 - D2H - FLJ34681 - NBAT - RBAT - Solute Carrier Family 3 (Amino Acid Transporter Heavy Chain), Member 1 wt Allele - Solute Carrier Family 3 (Cystine, Dibasic and Neutral Amino Acid Transporters), Member 1 Gene - Solute Carrier Family 3 (Cystine, Dibasic and Neutral Amino Acid Transporters, Activator of Cystine, Dibasic and Neutral Amino Acid Transport), Member 1 Gene - Solute Carrier Family 3, Member 1 Gene