XB-GENEPAGE-957296
???displayGene.symbol???:
ush2a
???displayGene.name???:
Usher syndrome 2A (autosomal recessive, mild)
???displayGene.synonyms???
LOC121394161
(
Nomenclature history )
???displayGene.geneFunction???
Extracellular matrix glycoprotein Laminin subunits alpha and gamma
AI Protein Function
:
ush2a encodes a large transmembrane protein with multiple laminin and fibronectin type III domains that functions as an extracellular matrix scaffold. The protein localizes to the plasma membrane of se...[+]
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Diseases:
Disease Ontology:
retinitis pigmentosa 39
MIM:
USHER SYNDROME, TYPE IIA; USH2A
External Links:
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