| Product Name | EYA1/EYA4 Polyclonal Antibody |
|---|---|
| Description | EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include Otofaciocervical Syndrome and Branchiootic Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Transcriptional misregulation in cancer. GO annotations related to this gene include RNA binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA4.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. Alternatively spliced transcript variants have been identified for this gene. EYA4 (EYA Transcriptional Coactivator And Phosphatase 4) is a Protein Coding gene. Diseases associated with EYA4 include Cardiomyopathy, Dilated, 1J and Deafness, Autosomal Dominant 10. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
| Host | Rabbit |
| Immunogen | Synthetic peptide from human protein |
| Isotype | IgG |
| Reactivity | Human, Mouse |
| Applications | ELISA, IHC |
| Form | PBS with 0.02% sodium azide and 50% glycerol pH 7.4. |
| Uniprot | Q99502/O95677 |
| Background |
EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include Otofaciocervical Syndrome and Branchiootic Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Transcriptional misregulation in cancer. GO annotations related to this gene include RNA binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA4.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. Alternatively spliced transcript variants have been identified for this gene. EYA4 (EYA Transcriptional Coactivator And Phosphatase 4) is a Protein Coding gene. Diseases associated with EYA4 include Cardiomyopathy, Dilated, 1J and Deafness, Autosomal Dominant 10. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. |
| Supplier | Elabscience |
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