
DNM1L Gene - GeneCards | DNM1L Protein | DNM1L Antibody
2024年12月24日 · DNM1L (Dynamin 1 Like) is a Protein Coding gene. Diseases associated with DNM1L include Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 and Optic Atrophy 5. Among its related pathways are Programmed Cell Death and Apoptotic cleavage of cellular proteins.
DNM1L - Wikipedia
Dynamin-1-like protein is a GTPase that regulates mitochondrial fission. In humans, dynamin-1-like protein, which is typically referred to as dynamin-related protein 1 (Drp1), is encoded by the DNM1L gene and is part of the dynamin superfamily (DSP) family of proteins. [5][6][7]
Nature:线粒体裂殖需要蛋白DRP1,但不需要动力蛋白
2019年6月28日 · 线粒体裂变(mitochondrial fission,有时也译作线粒体分裂)是维持线粒体网络所必需的,并且依赖于一种称为动力蛋白相关蛋白1(dynamin-relatedprotein 1, DRP1,也称为DNM1L)的GTP酶。
DNM1L dynamin 1 like [ (human)] - National Center for …
2025年2月9日 · DNM1L was found to be involved in the regulation of collagen secretion and cardiovascular calcification. The authors determine that Dengue virus nonstructural protein (NS)4B, a promising drug target with unknown function, associates with mitochondrial proteins, including Drp1, and alters mitochondria morphology to promote infection.
魏妍平、钱敏等关于DNM1L新发突变导致发育迟滞、共济失调和 …
动力相关蛋白1(dynamin-related protein 1)是线粒体分裂过程中必要的组成部分,其编码基因 DNM1L 突变热点集中在MSD(Middle assembly domain)和GD(GTPase domain)两个结构域。 其中MSD突变患者主要表现为 难治性癫痫;GD突变患者主要表现为 视神经萎缩,少数表现为全面发育迟滞或周围神经病。 本研究报道1例患者 DNM1L 突变位于GD结构域,与既往报道该结构域突变的临床表型有所不同。 本研究不足:未进行该突变位点功能学验证以及基因突变位点 …
DNM1L dynamin 1 like [Homo sapiens (human)] - Gene - NCBI
2025年2月9日 · DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Hogarth KA, et al . Biochem Genet, 2018 Apr. PMID 29110115
DNM1L dynamin 1 like - NIH Genetic Testing Registry (GTR) - NCBI
2024年11月3日 · Clinical resource with information about DNM1L, Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.
O00429 - UniProt
2007年2月6日 · Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria (PubMed:18838687). Interacts with BCL2L1 isoform BCL-X(L) and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF (PubMed:23792689).
Entry - *603850 - DYNAMIN 1-LIKE; DNM1L - OMIM
DNM1L belongs to the dynamin (see DNM1; 602377) family of large GTPases that mediate membrane remodeling during a variety of cellular processes. DNM1L has an important role in the fission of mitochondria and peroxisomes (summary by Pitts et al. (2004)).
DNM1L - 华文百科
Dynamin-1样蛋白是调节线粒体裂变的GTPase 。在人类中,通常称为Dynamin相关蛋白1(DRP1)的Dynamin-1样蛋白由DNM1L基因编码,并且是Dynamin Superfimily(DSP)蛋白质家族的一部分。