GRINA

Chr 8

glutamate ionotropic receptor NMDA type subunit associated protein 1

Also known as: HNRGW, LFG1, NMDARA1, TMBIM3

NCBI Gene: 2907 ENSG00000178719 UniProt: Q7Z429 OMIM: 138251

The protein functions as a calcium channel and potential apoptotic regulator involved in endoplasmic reticulum calcium homeostasis and negative regulation of neuronal apoptosis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with intellectual disability. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.49), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable calcium channel activity. Predicted to be involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors and negative regulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

Multiple*

Mechanism· predicted