人 PPOX (NM_000309) cDNA克隆

Accession: NM_000309
基因名称: PPOX
基因别名: VP; PPO; V290M
基因描述: Homo sapiens protoporphyrinogen oxidase (PPOX), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1434 (查看编码区序列)
翻译后氨基酸长度: 477 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
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G104014 人 PPOX (NM_000309) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]