Entrez gene ID | | 2138 |
Official gene symbol | | EYA1 |
Full name | | eyes absent homolog 1 (Drosophila) |
Aliases | | ,BOP,BOR,MGC141875, |
Gene 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] |
Location | | Chromosome: 8 Locus: 8q13.3 |
Gene position | | 72274467 - 72109668 Map Viewer |
Gene orientation | | minus |
Gene size | | 164800 bp |
Gene sequence |
| |
OMIM ID | | 601653 |
|