Girish Mahajan (Editor)

USH2A

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Species
  
Entrez
  
7399

Human
  
Ensembl
  
ENSG00000042781

USH2A stringdborgversion10apiimagenetworkListlim

Aliases
  
USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin

External IDs
  
MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A

Usherin is a protein that in humans is encoded by the USH2A gene.

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.

References

USH2A Wikipedia


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