GABBR1 Chromosome 6
Gamma-aminobutyric acid type B receptor subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
"Gamma-aminobutyric acid type B receptor subunits|Sushi domain containing"
Locus Type
gene with protein product
Location
6p22.1
Ensembl
ENSG00000204681
Associated Conditions (8)
Delayed speech and language development
Intellectual disability
Global developmental delay
Neurodevelopmental disorder with language delay and variable cognitive abnormalities
Atypical behavior
Motor delay
Neurofibromatosis
type 1
Key Variants
RS2482764108
Likely pathogenic
Delayed speech and language development, Intellectual disability, Global developmental delay
Health Risk
RS2482987023
Likely pathogenic
Delayed speech and language development, Intellectual disability, Global developmental delay
Health Risk
RS2483298866
Likely pathogenic
Atypical behavior, Global developmental delay, Motor delay
Health Risk
RS2483321372
Likely pathogenic
Delayed speech and language development, Intellectual disability, Global developmental delay
Health Risk
RS2483339912
Likely pathogenic
Neurofibromatosis, type 1, Neurofibromatosis
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2482764108 | Health Risk | Likely pathogenic | Delayed speech and language development, Intellectual disability, Global developmental delay |
| RS2482987023 | Health Risk | Likely pathogenic | Delayed speech and language development, Intellectual disability, Global developmental delay |
| RS2483298866 | Health Risk | Likely pathogenic | Atypical behavior, Global developmental delay, Motor delay |
| RS2483321372 | Health Risk | Likely pathogenic | Delayed speech and language development, Intellectual disability, Global developmental delay |
| RS2483339912 | Health Risk | Likely pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |