NEDLC
Chr 6ADgamma-aminobutyric acid type B receptor subunit 1
Also known as: GABABR1, GABBR1-3, GB1, GPRC3A, NEDLC
This protein functions as a GABA-B receptor subunit that forms heterodimers to mediate inhibitory neurotransmission in the central nervous system. Mutations cause neurodevelopmental disorder with language delay and variable cognitive abnormalities with autosomal dominant inheritance. The phenotype primarily affects neurodevelopment and cognition, consistent with the protein's role in GABAergic inhibitory signaling.
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/NEDLC?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
NEDLC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 publications found for NEDLC
External Resources
Links to major genomics databases and tools