Home  >  Products  >  Eyes Absent Homolog 1 (EYA1, Eyes Absent 1, OTTHUMP00000195053, Melnick-Fraser Syndrome, Eyes absent, Drosophila, homolog of, 1, MGC141875, BOR, BOP, Eyes Absent Homolog 1 (Drosophila))
Eyes Absent Homolog 1 (EYA1, Eyes Absent 1, OTTHUMP00000195053, Melnick-Fraser Syndrome, Eyes absent, Drosophila, homolog of, 1, MGC141875, BOR, BOP, Eyes Absent Homolog 1 (Drosophila))

Eyes Absent Homolog 1 (EYA1, Eyes Absent 1, OTTHUMP00000195053, Melnick-Fraser Syndrome, Eyes absent, Drosophila, homolog of, 1, MGC141875, BOR, BOP, Eyes Absent Homolog 1 (Drosophila))

Cat no: E9050-46

Supplier: United States Biological
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This gene encodes a member of the eyes absent (EYA) 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. Applications: Suitable for use in ELISA and Western Blot. Other applications have not been tested. Recommended Dilutions: Peptide ELISA Titer: 1:16,000 Western Blot: 1-3ug/ml ~55kD band observed in lysates of cell lline HEK293 (calculated MW of 60.7kD according to NP_742056.1). Optimal dilutions to be determined by the researcher. Storage and Stability: May be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Catalogue number: E9050-46
Reactivities: Human
Hosts: Goat
Applications: ELISA, Western Blot
Size: 100ug
Form: Supplied as a liquid in Tris saline, pH 7.3, 0.5% BSA, 0.02% sodium azide.
P type: Pab
Isotype: IgG
Purity: Purified by peptide affinity chromatography.
Alternative names: eyes absent 1, OTTHUMP00000195053, Melnick-Fraser syndrome, Eyes absent, Drosophila, homolog of, 1, MGC141875, BOR, BOP, eyes absent homolog 1 (Drosophila), EYA1
References: 1. Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ.Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Human Mutation 2008 Apr 29 (4): 537-44.
Additional info: Recognizes human EYA1. Species sequence homology: mouse, rat, canine, bovine. This antibody is expected to recognize all isoforms (NP_742057.1; NP_000494.2; NP_742056.1). Reported variants represent identical protein: NP_000494.2, NP_742055.1.

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