SLC1A4

Chr 2AR

solute carrier family 1 member 4

Also known as: ASCT1, SATT, SPATCCM

NCBI Gene: 6509 ENSG00000115902 UniProt: P43007 OMIM: 600229

The encoded protein is a sodium-dependent neutral amino acid transporter that exchanges amino acids like serine, alanine, and threonine across cell membranes and maintains D-serine homeostasis at synapses. Mutations cause autosomal recessive developmental delay, microcephaly, and intellectual disability with early childhood onset. The gene shows moderate intolerance to loss-of-function variants (LOEUF 0.637) and has an associated GeneReviews entry reflecting its clinical significance.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic tetraplegia, thin corpus callosum, and progressive microcephalyMIM #616657

Clinical highlights

Gene-disease validity (ClinGen)

spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome · ARDefinitivesufficient evidence for diagnostic panels

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — SLC1A4