Source:http://linkedlifedata.com/resource/umls/id/C2986630
NCI: 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.