| Name | eyes absent homolog 1 (Drosophila) |
| Symbol | EYA1 |
| Aliases | BOP; BOR; Melnick-Fraser syndrome; Eyes absent, Drosophila, homolog of, 1 |
| Gene Product | - eyes absent 1 isoform c
- eyes absent 1 isoform b
- eyes absent 1 isoform a
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| Category | |
| UniGene |
Hs.94210
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | 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. |
| Gene Ontology | |
| Expression | | EST (37 ESTs, 22 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain |  | | | cartilage | | | | ear | | | | heart | | | | kidney |  | | | lung | | | | nervous | | | | oral cavity | | | | skin | | | | testis | | | | uncharacterized tissue | | |
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| SAGE (2357382 tags, 47 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | cerebellum | | | | cervix | | | | colon | | | | eye | | | | foreskin | | | | heart | | | | lung | | | | mammary gland | | | | muscle | | | | nervous | | | | ovary | | | | pancreas | | | | prostate | | | | skin | | | | stomach | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Deletion in System Syndrom with Kidney Involvment
Mutation in System Syndrom with Kidney Involvment
- Rodriguez-Soriano J, Vallo A, Bilbao JR, Castano L Branchio-oto-renal syndrome: identification of a novel mutation in theEYA1 gene. Pediatr Nephrol 2001 Jul;16(7):550-3.
- Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ Branchio-oto-renal syndrome: identification of novel mutations, molecularcharacterization, mutation distribution, and prospects for genetictesting. Genet Test 1997-98;1(4):243-51.
- Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. J Hum Genet 1999;44(4):261-5.
- Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, Cremers CW Identification of three novel mutations in human EYA1 protein associatedwith branchio-oto-renal syndrome. Hum Mutat 1998;11(6):443-9.
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D Clustering of mutations responsible for branchio-oto-renal (BOR) syndromein the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997 Dec;6(13):2247-55.
Other key publications related to this gene
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