GLYR1

Chr 16

glyoxylate reductase 1 homolog

Also known as: BM045, HIBDL, N-PAC, NP60, NPAC, hNDF

NCBI Gene: 84656 ENSG00000140632 UniProt: Q49A26 OMIM: 610660

GLYR1 encodes a chromatin remodeling factor that destabilizes nucleosomes during transcriptional activation and regulates gene expression through histone modifications and interactions with histone-modifying enzymes. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and variable features including seizures and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.195), reflecting its essential role in transcriptional regulation.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including chromatin-protein adaptor activity; histone binding activity; and nucleosome binding activity. Involved in transcription elongation-coupled chromatin remodeling and transcription initiation-coupled chromatin remodeling. Located in nucleoplasm. Part of nucleosome. Is active in chromatin. [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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· predicted