Description
Product Characteristics: 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.,DNM1L,DLP1,DRP1,DVLP,DYMPLE,EMPF,EMPF1,HDYNIV,Cancer,Signal Transduction,Cell Biology & Developmental Biology,Apoptosis,Endocrine & Metabolism,Mitochondrial metabolism,Mitochondrial markers,Neuroscience,Neurodegenerative Diseases,Dopamine Signaling in Parkinson's Disease,DNM1L
Target Information: The protein encoded by this gene is a member of the dynamin superfamily of GTPases. Members of the dynamin-related subfamily, including the S. cerevisiae proteins Dnm1 and Vps1, contain the N-terminal tripartite GTPase domain but do not have the pleckstrin homology or proline-rich domains. This protein establishes mitochondrial morphology through a role in distributing mitochondrial tubules throughout the cytoplasm. The gene has 3 alternatively spliced transcripts encoding different isoforms. These transcripts are alternatively polyadenylated. [provided by RefSeq, Jul 2008]