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Peptide sequence: QDYPSYPSFG QGQYAQYYNS SPYPAHYMTS SNTSPTTPST NATYQLQEPP
Sequence homology: Cow: 93%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 86%
This gene encodes a member of the eyes absent 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Eyes absent; Eyes absent homolog 1; MGC141875; OTTHUMP00000195053
Gene Aliases: BOP; BOR; BOS1; EYA1; OFC1
UniProt ID: (Human) Q99502
Entrez Gene ID: (Human) 2138
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