人 EYA1 (NM_000503) cDNA克隆

Accession: NM_000503
基因名称: EYA1
基因别名: BOP; BOR; BOS1
基因描述: Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1779 (查看编码区序列)
翻译后氨基酸长度: 592 (查看氨基酸序列)
Transcript Variant: This variant (3), also known as EYA1C, differs in the 5' UTR compared to variant 2 and represents the longest transcript. It encodes the longest isoform b.
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G124280 人 EYA1 (NM_000503) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Jul 2008]