PDE10A

Chr 6

phosphodiesterase 10A

Also known as: ADSD2, HSPDE10A, IOLOD, PDE10A19

NCBI Gene: 10846 ENSG00000112541 UniProt: Q9Y233

This enzyme hydrolyzes cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) to regulate intracellular signaling, with higher affinity and efficiency for cAMP. Mutations cause infantile-onset limb and orofacial dyskinesia or autosomal dominant striatal degeneration, following either autosomal recessive or autosomal dominant inheritance patterns. The protein is essential for normal neurological function, as evidenced by its very high intolerance to loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDyskinesia, limb and orofacial, infantile-onset

UniProtStriatal degeneration, autosomal dominant 2

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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