GABBR1 gamma-aminobutyric acid type B receptor subunit 1
Gene ID: 2550, updated on 14-Nov-2024Gene type: protein coding
Also known as: GB1; NEDLC; GPRC3A; GABABR1; GABBR1-3
- See all available tests in GTR for this gene
- Go to complete Gene record for GABBR1
- Go to Variation Viewer for GABBR1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3. GeneReviews: Not available | |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | not available |
Genomic context
- Location:
- 6p22.1
- Sequence:
- Chromosome: 6; NC_000006.12 (29602238..29633183, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GABBR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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