SLC37A1

Chr 21

solute carrier family 37 member 1

Also known as: G3PP, SPX1

NCBI Gene: 54020 ENSG00000160190 UniProt: P57057

The protein is a glucose-6-phosphate transporter that moves glucose-6-phosphate from the cytoplasm into the endoplasmic reticulum lumen in exchange for inorganic phosphate. This gene is highly intolerant to loss-of-function mutations (pLI near 1, LOEUF 0.563), but pathogenic variants and associated diseases have not been definitively established in humans. Further research is needed to determine whether mutations in this gene cause pediatric neurological conditions.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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

0.56

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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