GABRB1 gene

gamma-aminobutyric acid type A receptor beta1 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 45

From UniProt:

Epileptic encephalopathy, early infantile, 45 (EIEE45): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. [MIM:617153]

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12

Molecular Location: base pairs 47,031,278 to 47,438,409 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12
  • EIEE45