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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EYA1-20-RE | 20 (40 μL) | 200 μL |  |
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| EYA1-20-OR | 20 (40 μL) | 200 μL |  |
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| EYA1-20-GO | 20 (40 μL) | 200 μL |  |
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| EYA1-20-GR | 20 (40 μL) | 200 μL |  |
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| EYA1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
Gene Symbol : EYA1
Gene Name : EYA transcriptional coactivator and phosphatase 1
Chromosome : CHR 8: 715,481,29-711,974,32
Locus : 8q13.3
Alt. Genes : OPTN
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