phosphodiesterase 10A

Summary
Gene Symbol
  • PDE10A
Aliases
  • cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Organism
Homo sapiens (human)
NCBI Gene
10846
HGNC
8772
PubChem
10846
Alliance of Genome Resources
JoGo
PDE10A
TogoVar
PDE10A
Annotation
Keyword
  • 3D-structure
  • Allosteric enzyme
  • Alternative initiation
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Hydrolase
  • Metal-binding
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • cAMP-binding
  • cGMP-binding
Proteins
Displaying all 3 entries
UniProt Protein Name
Q9Y233
A0A1B1UZQ1
A0A1B1UZR0
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060998 striatal degeneration 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 28 in total
HPO ID HPO Term
HP:0001337 Tremor
HP:0002072 Chorea
HP:0002194 Delayed gross motor development
HP:0002307 Drooling
HP:0002310 Orofacial dyskinesia
HP:0002317 Unsteady gait
HP:0002359 Frequent falls
HP:0002487 Hyperkinetic movements
HP:0002548 Parkinsonism with favorable response to dopaminergic medication
HP:0003593 Infantile onset
Displaying all 4 entries
Disease ID Disease Name
ORPHA:494541
  • childhood-onset benign chorea with striatal involvement
OMIM:616921
  • infantile-onset generalized dyskinesia with orofacial involvement
OMIM:616922
  • striatal degeneration, autosomal dominant 2
ORPHA:494526
  • infantile-onset generalized dyskinesia with orofacial involvement

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025