SERINC1

Chr 6

serine incorporator 1

Also known as: TDE1L, TDE2, TMS-2, TMS2

NCBI Gene: 57515 ENSG00000111897 UniProt: Q9NRX5

SERINC1 encodes a protein that enhances the incorporation of serine into phosphatidylserine and sphingolipids, playing a role in membrane lipid biosynthesis. Mutations in SERINC1 have been associated with autosomal recessive neurodevelopmental disorders. The gene appears to be important for proper membrane composition and cellular function.

ResearchSummary from RefSeq, UniProt

Predicted to enable acetyltransferase activator activity; enzyme binding activity; and protein-macromolecule adaptor activity. Predicted to be involved in membrane biogenesis; phosphatidylserine metabolic process; and sphingolipid metabolic process. Predicted to be located in endoplasmic reticulum membrane and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

0.61

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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