GPR88 Chromosome 1
G protein-coupled receptor 88
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What This Gene Does
The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been associated with chorea, speech delay, and learning difficulties, as well as some neuropsychiatric disorders. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
G protein-coupled receptors, Class A orphans
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000181656
Associated Conditions (3)
Chorea
childhood-onset
with psychomotor retardation
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS875989788 | Health Risk | Pathogenic | Chorea, childhood-onset, with psychomotor retardation |