人 C21orf2 (NM_001271442) cDNA克隆

Accession: NM_001271442
基因名称: C21orf2
基因别名: YF5/A2
基因描述: Homo sapiens chromosome 21 open reading frame 2 (C21orf2), transcript variant 4, mRNA.
种属: Human
CDS区长度: 645 (查看编码区序列)
翻译后氨基酸长度: 214 (查看氨基酸序列)
Transcript Variant: This variant (4) has an alternate 5' exon and an additional exon in the 5' region, which cause translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (4, also known as A2) is shorter and lacks a mitochondrial targeting peptide, compared to isoform 1.
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G117790 人 C21orf2 (NM_001271442) cDNA克隆 pDONR223 2ug质粒 点击询价

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]