人 C10orf2 (NM_001163812) cDNA克隆

基本信息

Accession: NM_001163812
基因名称: C10orf2
基因别名: PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7
基因描述: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1749 (查看编码区序列)
翻译后氨基酸长度: 582 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which introduces a novel stop codon, compared to variant 1. The encoded protein (isoform B; also known as Twinky) has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.

订购信息

产品编号 产品名称 载体 规格 价格
G121059 人 C10orf2 (NM_001163812) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 C10orf2 (NM_021830) cDNA克隆 transcript variant 1
人 C10orf2 (NM_001163812) cDNA克隆 transcript variant 2
人 C10orf2 (NM_001163813) cDNA克隆 transcript variant 3
人 C10orf2 (NM_001163814) cDNA克隆 transcript variant 4

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]

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