SLC43A2

Chr 17

solute carrier family 43 member 2

Also known as: LAT4

NCBI Gene: 124935 ENSG00000167703 UniProt: Q8N370

This protein functions as a uniporter that mediates the transport of L-phenylalanine, L-methionine, and branched-chain amino acids across cell membranes through facilitated diffusion, and may control amino acid reabsorption in the kidney and small intestine. Mutations in SLC43A2 cause autosomal recessive nonsyndromic intellectual disability, with patients presenting with developmental delay and intellectual disability. The gene shows tolerance to loss-of-function variants (low pLI of 0.006), suggesting the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]

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

0.57

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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