TSPOAP1 Chromosome 17
TSPO associated protein 1
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What This Gene Does
Enables benzodiazepine receptor binding activity. Involved in regulation of neurotransmitter secretion. Located in mitochondrion. Implicated in dystonia 22, adult-onset and dystonia 22, juvenile-onset. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000005379
Associated Conditions (3)
Bardet-Biedl syndrome
Dystonia 22
juvenile-onset
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2509201283 | Health Risk | Pathogenic | — |
| RS2509220941 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2509251587 | Health Risk | Pathogenic | Dystonia 22, juvenile-onset, Dystonia 22 |