TSPOAP1

Chr 17AR

TSPO associated protein 1

Also known as: BZRAP1, DYT22, PBR-IP, PRAX-1, PRAX1, RIM-BP1, RIMBP1

NCBI Gene: 9256 ENSG00000005379 UniProt: O95153 OMIM: 610764

This protein is required for synaptic transmission regulation and controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, modulating neurotransmitter release. Mutations cause dystonia 22 with either juvenile-onset or adult-onset presentations, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.36), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Dystonia 22, adult-onsetMIM #620456

Dystonia 22, juvenile-onsetMIM #620453

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

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Mechanism