人 OPA1 (NM_130837) cDNA克隆

基本信息

Accession: NM_130837
基因名称: OPA1
基因别名: NPG; NTG; MGM1; largeG
基因描述: Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), transcript variant 8, mRNA.
种属: Human
CDS区长度: 3048 (查看编码区序列)
翻译后氨基酸长度: 1015 (查看氨基酸序列)
Transcript Variant: This variant (8) contains 2 additional exons, 4b and 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (8) of 1015 aa. This variant is based on an alternate splice pattern characterized by Delettre et al (2001, PMID: 11810270), but the complete 5' to 3' exon combination is inferred and not supported at the time of review by a single long cDNA.

订购信息

产品编号 产品名称 载体 规格 价格
G153159 人 OPA1 (NM_130837) 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 OPA1 (NM_015560) cDNA克隆 transcript variant 1
人 OPA1 (NM_130831) cDNA克隆 transcript variant 2
人 OPA1 (NM_130832) cDNA克隆 transcript variant 3
人 OPA1 (NM_130833) cDNA克隆 transcript variant 4
人 OPA1 (NM_130834) cDNA克隆 transcript variant 5
人 OPA1 (NM_130835) cDNA克隆 transcript variant 6
人 OPA1 (NM_130836) cDNA克隆 transcript variant 7
人 OPA1 (NM_130837) cDNA克隆 transcript variant 8

基因简介

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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