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USH2A
Usher Syndrome 2a (AUTOSOMAL RECESSIVE, MILD)
USH2A is 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.
| Gene Name: | Usher Syndrome 2a (AUTOSOMAL RECESSIVE, MILD) |
| Synonyms: | USH2A, DJ1111A8.1, RP39, USH2, Usherin, US2, Usher syndrome type-2A protein |
| Target Sequences: | NM_007123 NP_009054.5 O75445 |
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