Search Thermo Fisher Scientific
Immunogen sequence: QYAQYYSAST YGAYMTSNNT ADGTPSSTST YQLQESLPGL TNQPGEFDTM QSPSTPIKDL DERTCRSSGS KS
Highest antigen sequence identity to the following orthologs: Mouse - 93%, Rat - 93%.
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: dJ78N10.1 (eyes absent); Eyes absent homolog 4; eyes absent-like protein 4
基因别名: B130023L16Rik; CMD1J; DFNA10; EYA4
UniProt ID: (Human) O95677, (Mouse) Q9Z191
Entrez Gene ID: (Human) 2070, (Rat) 292172, (Mouse) 14051