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FIGURE: 1 / 3
Positive Samples: SH-SY5Y, 293T, Mouse testis, Mouse brain, Rat brain
Immunogen sequence: NSLTNSSGFN SSQQDYPSYP SFGQGQYAQY YNSSPYPAHY MTSSNTSPTT PSTNATYQLQ EPPSGITSQA VTDPTAEYST IHSPSTPIKD SDSDRLRRGS D
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.
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Protein Aliases: EYA transcriptional coactivator and phosphatase 1; Eyes absent; eyes absent 1 homolog; Eyes absent homolog 1; MGC141875; OTTHUMP00000195053
Gene Aliases: BOP; BOR; BOS1; EYA1; OFC1
UniProt ID: (Human) Q99502, (Mouse) P97767
Entrez Gene ID: (Human) 2138, (Mouse) 14048, (Rat) 502935
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