Gene: LOC105375894

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: EYA1

Alternate names for this Gene: BOP|BOR|BOS1|OFC1

Gene 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. Alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q13.3

Description of this Gene: EYA transcriptional coactivator and phosphatase 1

Type of Gene: protein-coding

rs10090382 in LOC105375894;EYA1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397517920 in LOC105375894;EYA1 gene and Branchiootorenal Syndrome 1 PMID 10464653 1999 Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

PMID 11558900 2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

PMID 10991693 2000 Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

PMID 21280147 2011 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.

PMID 9361030 1997 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.