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- accession：NM_130833
- 基因别名：OPA1
- 基因描述：Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), transcript variant 4, mRNA.
- 载体：现货载体
- CDS区长度：2886
- 翻译后氨基酸长度：961
- TranscriptVariant：This variant (4) is missing exon 4, but contains exon 5b, compared to transcript variant 1. It however, maintains the same reading frame and encodes an isoform (4) of 961 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.
- 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]
- 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
