EYA1

Name

EYA transcriptional coactivator and phosphatase 1

Type

protein-coding

Aliases

BOP, BOR, BOS1, OFC1, OTFCS

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].

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Gene · Ensembl

EYA transcriptional coactivator and phosphatase 1

Symbol

EYA1

Biotype

Protein coding

Organism

Homo sapiens

Location

8:71,197,432-71,592,025

Strand

Reverse (−)

Assembly

GRCh38