Gene Symbol | EYA1 |
Entrez Gene ID | 2138 |
Full Name | EYA transcriptional coactivator and phosphatase 1 |
Synonyms | BOP,BOR,BOS1,OFC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]. |
Disorder MIM: | |
Disorder Html: | Branchiootorenal syndrome 1, with or without cataracts, 113650 (3); Anterior segment anomalies with or without cataract, 602588 (3); Branchiootic syndrome 1, 602588 (3); ?Otofaciocervical syndrome, 166780 (3) |