人 OPA3 (NM_001017989) cDNA克隆

Accession: NM_001017989
基因名称: OPA3
基因别名: MGA3
基因描述: Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 543 (查看编码区序列)
翻译后氨基酸长度: 180 (查看氨基酸序列)
Transcript Variant: This variant (1) uses an alternate splice site resulting in a distinct 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (a) has a longer and distinct C-terminus, compared to isoform b.
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G121384 人 OPA3 (NM_001017989) cDNA克隆 pDONR223 2ug质粒 点击询价

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]