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, Jul 2008].
Corno, Daniela, Pala, Cominelli, Cipelletti, Leto, Croci, Barili, Brandalise, Melzi, Di Gregorio, Sergi, Politi, Piemonti, Bulfone, Rossi, Rossi, Consalez, Poliani, Galli et al.: "Gene signatures associated with mouse postnatal hindbrain neural stem cells and medulloblastoma cancer stem cells identify novel molecular mediators and predict human medulloblastoma molecular ..." in: Cancer discovery, Vol. 2, Issue 6, pp. 554-68, (2012) (PubMed).
El-Hashash, Al Alam, Turcatel, Bellusci, Warburton: "Eyes absent 1 (Eya1) is a critical coordinator of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung." in: Developmental biology, Vol. 350, Issue 1, pp. 112-26, (2011) (PubMed).
Orten, Fischer, Sorensen, Radhakrishna, Cremers, Marres, Van Camp, Welch, Smith, Kimberling: "Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR." in: Human mutation, Vol. 29, Issue 4, pp. 537-44, (2008) (PubMed).
Suzuki, Fujisawa, Ando, Niino, Ohsawa, Shimokata, Ohta: "Alcohol dehydrogenase 2 variant is associated with cerebral infarction and lacunae." in: Neurology, Vol. 63, Issue 9, pp. 1711-3, (2004) (PubMed).
Aliases for EYA1 抗体
EYA transcriptional coactivator and phosphatase 1 (EYA1) 抗体 EYA transcriptional coactivator and phosphatase 1 (eya1) 抗体 EYA transcriptional coactivator and phosphatase 1 (Eya1) 抗体 EYA transcriptional coactivator and phosphatase 1 L homeolog (eya1.L) 抗体 bop 抗体 BOP 抗体 bor 抗体 BOR 抗体 BOS1 抗体 EYA1 抗体 wu:fc13c10 抗体 XEya1 抗体 zgc:100770 抗体