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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Eyes absent; Eyes absent homolog 1; MGC141875; OTTHUMP00000195053
基因别名: BOP; BOR; BOS1; EYA1; OFC1
UniProt ID: (Human) Q99502
Entrez Gene ID: (Human) 2138