USH2A
Usher syndrome 2A (autosomal recessive, mild)
Synonyms:
RP39, US2, USH2, dJ1111A8.1
Species:
Human USH2A (7399), Mouse Ush2a (22283), Rat Ush2a (289369), sheep USH2A (101120853), Horse USH2A (100050607), domestic cat USH2A (101091499), dog USH2A (488593), chicken USH2A (421358), Zebrafish ush2a (568982), cow USH2A (100296635) ...More
UniProtKB ID:
Gene ID:
- Human(7399) Summary: 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. [provided by RefSeq, Dec 2008]
- Mouse(22283) Usher syndrome 2A (autosomal recessive, mild)
- Rat(289369) Usher syndrome 2A (autosomal recessive, mild)
- sheep(101120853) Usher syndrome 2A (autosomal recessive, mild)
- Horse(100050607) Usher syndrome 2A (autosomal recessive, mild)
- domestic cat(101091499) Usher syndrome 2A (autosomal recessive, mild)
- dog(488593) Usher syndrome 2A (autosomal recessive, mild)
- chicken(421358) Usher syndrome 2A (autosomal recessive, mild)
- Zebrafish(568982) Usher syndrome 2A (autosomal recessive, mild)
- cow(100296635) Usher syndrome 2A (autosomal recessive, mild)
- naked mole-rat(101700761) Usher syndrome 2A (autosomal recessive, mild)
- domestic guinea pig(100719619) Usher syndrome 2A (autosomal recessive, mild)
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