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FLASH GENE
Symbol OTUD7A contributors: mct/npt - updated : 15-11-2022
HGNC name OTU domain containing 7A
HGNC id 20718
ASSOCIATED DISORDERS
corresponding disease(s) EIEE93
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
may contribute to neuropsychiatric phenotypes
tumoral     --low  
in hepatocellular carcinoma
constitutional       loss of function
impairs synapse development and neuronal function in human neurons, in SZ-affected individuals
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Otud7a KO mice have deficits in cortical neuron dendritic spine density and glutamatergic transmission
  • Otud7a-null mice show reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalizations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (
  • Otud7a-null mice showed decreased dendritic spine density as well as reduced frequency of miniature excitatory postsynaptic currents