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The official name of this gene is “dopamine receptor D3.”
DRD3 is the gene's official symbol. The DRD3 gene is also known by other names, listed below.
This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation.
Tremor, hereditary essential 1 (ETM1): A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. Disease susceptibility is associated with variations affecting the gene represented in this entry.
|190300 (http://omim.org/entry/190300)||TREMOR, HEREDITARY ESSENTIAL, 1|
|126451 (http://omim.org/entry/126451)||DOPAMINE RECEPTOR D3|
Cytogenetic Location: 3q13.3
Molecular Location on chromosome 3: base pairs 114,127,796 to 114,199,406
The DRD3 gene is located on the long (q) arm of chromosome 3 at position 13.3.
More precisely, the DRD3 gene is located from base pair 114,127,796 to base pair 114,199,406 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about DRD3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; autosomal ; autosomal dominant ; cell ; cell proliferation ; disability ; dopamine ; gene ; genetic variation ; hereditary ; inheritance ; isoforms ; mutation ; polymorphism ; proliferation ; receptor ; schizophrenia ; splicing ; susceptibility ; transcript ; tremor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.