Gene: GABRB3

Alternate names for this Gene: DEE43|ECA5|EIEE43

Gene Summary: This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 15

Location in Chromosome : 15q12

Description of this Gene: gamma-aminobutyric acid type A receptor subunit beta3

Type of Gene: protein-coding

Gene: LOC112268151

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs11161335 in GABRB3;LOC112268151 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3212335 in GABRB3;LOC112268151 gene and Longevity PMID 20834067 2010 Joint influence of small-effect genetic variants on human longevity.

rs3212332 in GABRB3;LOC112268151 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.