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- accession：NM_001163813
- 基因别名：C10orf2
- 基因描述：Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：693
- 翻译后氨基酸长度：230
- TranscriptVariant：This variant (3) uses an alternate splice site in exon 1 that results in the use of an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform C) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, compared to isoform A.
- 基因简介：This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
