Entity Details

Primary name ADAM22
Entity type gene
Source Source Link

Details

PrimaryID53616
RefseqGene
SymbolADAM22
NameADAM metallopeptidase domain 22
Chromosome7
Location7q21.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsADA22_HUMAN

GO terms

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GOName
GO:0004222 metalloendopeptidase activity
GO:0005178 integrin binding
GO:0005886 plasma membrane
GO:0007155 cell adhesion
GO:0007162 negative regulation of cell adhesion
GO:0007417 central nervous system development
GO:0008344 adult locomotory behavior
GO:0016021 integral component of membrane
GO:0022011 myelination in peripheral nervous system
GO:0030424 axon
GO:0098978 glutamatergic synapse
GO:0099061 integral component of postsynaptic density membrane
GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane

Diseases

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Disease IDSourceNameDescription
617933 OMIMDevelopmental and epileptic encephalopathy 61 (DEE61)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy. The disease is caused by variants affecting the gene represented in this entry.