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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EYA1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2138
Official gene symbolEYA1
Full nameeyes absent homolog 1 (Drosophila)
Aliases,BOP,BOR,MGC141875,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 8   Locus: 8q13.3
Gene position72274467 - 72109668  Map Viewer
Gene orientationminus
Gene size164800 bp
Gene sequence
OMIM ID601653