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This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and 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 and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.
Usher syndrome 2A (autosomal recessive, mild)
, novel Fibronectin type III domain containing protein
, usher syndrome type IIa protein
, usher syndrome type-2A protein
, Usher syndrome 2A (autosomal recessive, mild) homolog
, usher syndrome type IIa protein homolog
, usher syndrome type-2A protein homolog
, Usher syndrome 2A homolog