GPR34

Chr X

G protein-coupled receptor 34

Also known as: LPS1, LYPSR1

NCBI Gene: 2857 ENSG00000171659 UniProt: Q9UPC5

GPR34 encodes a G-protein-coupled receptor that recognizes lysophosphatidylserine and functions as a damage-sensing receptor in immune responses, controlling microglial morphology and phagocytosis in the brain and triggering tissue repair upon recognition of dying cells. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to reduced gene dosage.

ResearchSummary from RefSeq, UniProt

G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]

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

0.82

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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