人 DNM1L (NM_001278463) cDNA克隆

Accession: NM_001278463
基因名称: DNM1L
基因别名: DLP1; DRP1; DVLP; EMPF; DYMPLE; HDYNIV
基因描述: Homo sapiens dynamin 1-like (DNM1L), transcript variant 4, mRNA.
种属: Human
CDS区长度: 2178 (查看编码区序列)
翻译后氨基酸长度: 725 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
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G112719 人 DNM1L (NM_001278463) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]