SLC38A1

Chr 12

solute carrier family 38 member 1

Also known as: ATA1, NAT2, SAT1, SNAT1

NCBI Gene: 81539 ENSG00000111371 UniProt: Q9H2H9 OMIM: 608490

This gene encodes a sodium-coupled amino acid transporter that cotransports glutamine and other neutral amino acids across cell membranes, playing a critical role in neurotransmitter cycling by facilitating glutamine uptake into GABAergic interneurons for GABA synthesis. Pathogenic variants cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.35

LOEUF

Multiple*

Mechanism· predicted