EYA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EYA1 wild-type allele is located in the vicinity of 8q13.3 and is approximately 395 kb in length. This allele, which encodes protein phosphatase EYA1 protein, may be involved in the development of the eyes, ears, branchial arches and kidney. Mutations of this gene are associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, congenital cataracts and ocular anterior segment anomalies.

**Synonyms:** - BOP - BOR - BOS1 - EYA Transcriptional Coactivator and Phosphatase 1 wt Allele - Eyes Absent (Drosophila) Homolog 1 Gene - Eyes Absent 1 Gene - Eyes Absent Homolog 1 (Drosophila) Gene - Eyes Absent, Drosophila, Homolog of, 1 - MGC141875 - OFC1 - OTFCS