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NEDLC

Chr 6AD

gamma-aminobutyric acid type B receptor subunit 1

Also known as: GABABR1, GABBR1-3, GB1, GPRC3A, NEDLC

NCBI Gene: 2550 OMIM: 620502

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

OMIM ResearchGenerating clinical summary…