GABBR1

Chr 6AD

gamma-aminobutyric acid type B receptor subunit 1

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

NCBI Gene: 2550 ENSG00000204681 UniProt: Q9UBS5 OMIM: 603540

The GABBR1 protein forms a heterodimeric G-protein coupled receptor with GABBR2 that binds GABA and fine-tunes inhibitory synaptic transmission by modulating calcium channels and potassium conductance. Mutations cause autosomal dominant neurodevelopmental disorder with language delay and variable cognitive abnormalities. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.22), indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with language delay and variable cognitive abnormalitiesMIM #620502

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

Multiple*

Mechanism· predicted