EYA1 Products

Description

The EYA1 gene encodes an eyes absent homolog 1 protein that exists in three isoforms: isoform 1: 592 amino acids long, 64 kDA; isoform 2: 559 amino acids long, 61 kDA; and isoform 3: 557 amino acids long; 60 kDA. The protein coded by the EYA1 gene functions in the development of the kidney, brancial arches, eyes, and ears. Mutations in the EYA1 gene lead to branchiootorenal dysplasia syndrome, congenital cataracts and ocular anterior segment anomalies, and branchiootic syndrome. The EYA1 gene is also linked to fraser syndrome, microphthalmia, cataracts, enlarged vestibular aqueducts, townes-brocks syndrome, and anophthalmia.

Bioinformatics

Entrez	14048 Mouse 2138 Human 502935 Rat
Uniprot	NP_000494 Human NP_742055 Human NP_742056 Human NP_742057 Human Q99502 Human
Product By Gene ID	2138
Alternate Names	BOP BOR EC 3.1.3.48 eyes absent (Drosophila) homolog 1 eyes absent homolog 1 (Drosophila) eyes absent homolog 1 MGC141875

Research Areas for EYA1

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Protein Phosphatase