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Validated All-in-One™ qPCR Primer for EYA1(NM_172058.4) 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 play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. [provided by RefSeq].
Gene References into function
- Mutations in the EYA1 gene have been identified in both branchio-oto and branchio-oto-renal syndromes.
- Defective protein-protein interactions of mutations in the EYA domain underlie brachio-oto-renal syndrome.
- These results suggest that the S189G mutation is a candidate mutation for Branchio-Oto syndrome.
- three Six1 mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding
- EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.
- Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene.
- Point mutations altering the EYA1 reading frame, can be found in patients with oto-facio-cervical syndrome.
- A novel EYA1 mutation was identified in a newborn with laryngomalacia, glossoptosis, retrognathism, and funnel chest.
- We report a second Korean family with branchio-oto-renal syndrome with a novel nonsense EYA1 mutation
- Four EYA1 mutations provide a molecular diagnosis of branchio-oto-renal syndrome in five out of six Danish families.
- results indicate that mutations in EYA1 and TCF2 rarely result in an isolated Congenital anomalies of the kidney and urinary tract (CAKUT) phenotype.
- EYA1 mutations were found in 31% of families fitting established clinical criteria for branchio-oto-renal syndrome (BOR) and 7% of families with questionable BOR phenotype