人 ISCU (NM_213595) cDNA克隆

Accession: NM_213595
基因名称: ISCU
基因别名: HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik
基因描述: Homo sapiens iron-sulfur cluster assembly enzyme (ISCU), transcript variant 2, mRNA.
种属: Human
CDS区长度: 504 (查看编码区序列)
翻译后氨基酸长度: 167 (查看氨基酸序列)
Transcript Variant: This variant (2) encodes the longer protein (isoform ISCU2). Isoform ISCU2 is found in the mitochondrion.
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G103229 人 ISCU (NM_213595) cDNA克隆 pDONR223 2ug质粒 点击询价

Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. [provided by RefSeq, Jul 2008]