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Validated All-in-One™ qPCR Primer for EYA4(NM_172103.4) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus.
Gene References into function
- Mutation analysis of the EYA4 gene, which maps to 6q22.3, revealed an insertion of 4 bp (1558insTTTG) in affected family members with hereditary hearing impairment
- Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
- Results show the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation with/without the of dilated cardiomyopathy, and will facilitate the counseling of patients with these phenotypes and EYA4 mutations.
- Study is the first report of a point mutation in EYA4 that is hypothesized to lead to aberrant pre-mRNA splicing and human disease.
- Mice lacking the orthologous gene have severe hearing deficits, suggesting that some human otitis media susceptibility reflects underlying genetic predisposition in genes such as this one.