GNAL Chromosome 18
G protein subunit alpha L
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What This Gene Does
This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
G protein subunits alpha, group s
Locus Type
gene with protein product
Location
18p11.21
Ensembl
ENSG00000141404
Associated Conditions (6)
Dystonic disorder
Inborn genetic diseases
GNAL-related disorder
Limb dystonia
Dysarthria
Dystonia 25
Key Variants
RS186859429
Conflicting classifications of pathogenicity
Dystonic disorder, Inborn genetic diseases, Dystonic disorder
Health Risk
RS371094261
Conflicting classifications of pathogenicity
Dystonic disorder, GNAL-related disorder, Dystonic disorder
Health Risk
RS1555646537
Likely pathogenic
Health Risk
RS1568010705
Likely pathogenic
Health Risk
RS1598429555
Likely pathogenic
Limb dystonia, Dysarthria, Limb dystonia
Health Risk
RS2032882195
Likely pathogenic
Dystonic disorder, Dystonic disorder
Health Risk
RS2510260408
Likely pathogenic
Health Risk
RS2510479553
Likely pathogenic
Dystonia 25, Dystonia 25
Health Risk
RS1057519098
Pathogenic
Health Risk
RS1252185897
Pathogenic
Dystonia 25, Dystonic disorder, Dystonia 25
Health Risk
RS2143096767
Pathogenic
Dystonic disorder, Dystonic disorder
Health Risk
RS2143097031
Pathogenic
Dystonic disorder, Dystonic disorder
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186859429 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Inborn genetic diseases, Dystonic disorder |
| RS371094261 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, GNAL-related disorder, Dystonic disorder |
| RS1555646537 | Health Risk | Likely pathogenic | — |
| RS1568010705 | Health Risk | Likely pathogenic | — |
| RS1598429555 | Health Risk | Likely pathogenic | Limb dystonia, Dysarthria, Limb dystonia |
| RS2032882195 | Health Risk | Likely pathogenic | Dystonic disorder, Dystonic disorder |
| RS2510260408 | Health Risk | Likely pathogenic | — |
| RS2510479553 | Health Risk | Likely pathogenic | Dystonia 25, Dystonia 25 |
| RS1057519098 | Health Risk | Pathogenic | — |
| RS1252185897 | Health Risk | Pathogenic | Dystonia 25, Dystonic disorder, Dystonia 25 |
| RS2143096767 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2143097031 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2143650879 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2510259475 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2510353223 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2510535483 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS398122924 | Health Risk | Pathogenic | Dystonia 25, Dystonia 25 |
| RS398122925 | Health Risk | Pathogenic | Dystonia 25, Dystonia 25 |
| RS398122926 | Health Risk | Pathogenic | Dystonia 25, Dystonia 25 |
| RS398122927 | Health Risk | Pathogenic | Dystonia 25, Dystonia 25 |
| RS398122928 | Health Risk | Pathogenic | Dystonia 25, Dystonia 25 |