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GABRD

GABRD

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

What is the official name of the GABRD gene?

The official name of this gene is “gamma-aminobutyric acid (GABA) A receptor, delta.”

GABRD is the gene's official symbol. The GABRD gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the GABRD gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

How are changes in the GABRD gene related to health conditions?

Genetics Home Reference provides information about juvenile myoclonic epilepsy, which is associated with changes in the GABRD gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the GABRD gene's known or predicted involvement in human disease.

Generalized epilepsy with febrile seizures plus 5 (GEFS+5): A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Epilepsy, idiopathic generalized 10 (EIG10): A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Juvenile myoclonic epilepsy 7 (EJM7): A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the GABRD gene.
  • Epilepsy, idiopathic generalized 10
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the GABRD gene and its association with health conditions.
OMIM
Number
Title

Where is the GABRD gene located?

Cytogenetic Location: 1p36.3

Molecular Location on chromosome 1: base pairs 2,019,328 to 2,030,752

The GABRD gene is located on the short (p) arm of chromosome 1 at position 36.3.

The GABRD gene is located on the short (p) arm of chromosome 1 at position 36.3.

More precisely, the GABRD gene is located from base pair 2,019,328 to base pair 2,030,752 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about GABRD?

You and your healthcare professional may find the following resources about GABRD helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GABRD gene or gene products?

  • EIG10
  • EJM7
  • GEFSP5

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GABRD?

autosomal ; autosomal dominant ; channel ; chloride ; chloride channels ; epilepsy ; familial ; fever ; GABA ; gamma-aminobutyric acid ; gene ; idiopathic ; intrafamilial variability ; juvenile ; ligand ; penetrance ; receptor ; seizure ; subunit ; susceptibility ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: March 2, 2015