Gene: SLC38A1

Alternate names for this Gene: ATA1|NAT2|SAT1|SNAT1

Gene Summary: Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.11

Description of this Gene: solute carrier family 38 member 1

Type of Gene: protein-coding

rs10880942 in SLC38A1 gene and Antithrombin Antigen Measurement PMID 23705025 2013 Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?

rs6582623 in SLC38A1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.