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Eyes Absent Homolog 1 (EYA1)

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BOP; BOR; MGC141875

Eyes Absent Homolog 1 (EYA1)
CCC L129
HGNC 3519
MGI 109344
PubMed 21364285
RGD 1584849
UniProt Q99502
Wiki EYA1
EYA1 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.
In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Eyes Absent Homolog 1 (EYA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Eyes Absent Homolog 1 (EYA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Eyes Absent Homolog 1 (EYA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Eyes Absent Homolog 1 (EYA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Eyes Absent Homolog 1 (EYA1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Eyes Absent Homolog 1 (EYA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Eyes Absent Homolog 1 (EYA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Eyes Absent Homolog 1 (EYA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Eyes Absent Homolog 1 (EYA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Eyes Absent Homolog 1 (EYA1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Eyes Absent Homolog 1 (EYA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Eyes Absent Homolog 1 (EYA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Eyes Absent Homolog 1 (EYA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Eyes Absent Homolog 1 (EYA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Eyes Absent Homolog 1 (EYA1) ELISA Kit Customized Service Offer
  1. "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1."Hum. Mol. Genet. 6:2247-2255(1997) [PubMed] [Europe PMC] [Abstract]
  2. "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family."Nat. Genet. 15:157-164(1997) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "BOR and BO syndromes are allelic defects of EYA1."Eur. J. Hum. Genet. 5:242-246(1997) [PubMed] [Europe PMC] [Abstract]
  6. "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM."Hum. Genet. 108:398-403(2001) [PubMed] [Europe PMC] [Abstract]
  7. "Six and Eya expression during human somitogenesis and MyoD gene family activation."J. Muscle Res. Cell Motil. 23:255-264(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome."Ann. Hum. Genet. 70:140-144(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum."Am. J. Med. Genet. A 140:1343-1345(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions."Nature 458:591-596(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing."Genet. Test. 1:243-251(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies."Hum. Mol. Genet. 9:363-366(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes."J. Med. Genet. 37:623-627(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis."J. Hum. Genet. 46:518-521(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Mutation of the EYA1 gene in patients with branchio-oto syndrome."Acta Oto-Laryngol. 123:279-282(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations."Hum. Mutat. 32:183-190(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]