ⓘ EYA1

                                     

ⓘ EYA1

Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.

This gene encodes a member of the eyes absent Eya family of proteins. The encoded protein may play a role in developing kidney, branchial arches, eye and ear. Mutations in 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 transcription activator. Four variant transcripts encoding three different isoforms have been identified for this gene.

                                     
  • mutations in genes, EYA1 SIX 1 and SIX5 approximately 40 percent of those born with this condition have a mutation in the EYA1 gene Many different
  • a protein that in humans is encoded by the EYA 4 gene. This gene encodes a member of the eyes absent EYA family of proteins. The encoded protein may
  • a protein that in humans is encoded by the EYA 2 gene. This gene encodes a member of the eyes absent EYA family of proteins. The encoded protein may
  • renal pelvis, major and minor calyces and collecting ducts. Mutations in the EYA1 gene, which is a GDNF transcription factor, lead to the renal abnormalities
  • Cruz Melchor Eya Nchama born January 6, 1945, Kukumankok, Equatorial Guinea is a judge at the Court of Geneva. Justice Eya Nchama currently serves as
  • PMID 12215533. Buller C, Xu X, Marquis V, et al. 2002 Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome Hum. Mol. Genet
  • enzymes. The subfamily EYA eyes absent is believed to be pTyr - specific, and has four members in human, EYA1 EYA 2, EYA 3, and EYA 4. This class has a distinct
  • urogenital development. In normal kidney development, activation of the Pax2 - Eya1 - Hox11 complex and subsequent activation of Six2 and Gdnf expression allows
  • Mannophorus LeConte, 1854 Martinsellus Megaderus Dejean, 1821 Megapurpuricenus Eya Metaleptus Bates, 1872 Metopocoilus Micropelta Mimonneticus Molitones Monneellus