NDHMSD
Chr 9ADglutamate ionotropic receptor NMDA type subunit 1
Also known as: DEE101, GluN1, MRD8, NDHMSD, NDHMSR, NMD-R1, NMDA1, NMDAR1
The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate (NMDA) receptors, which are glutamate-gated ion channels that play a key role in synaptic plasticity underlying memory and learning. Mutations cause neurodevelopmental disorder with or without hyperkinetic movements and seizures with autosomal dominant inheritance. This condition primarily affects the central nervous system, presenting with developmental delays and variable neurological features including movement disorders and epilepsy.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NDHMSD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDHMSD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools