Aliases for DNM1L Gene
External Ids for DNM1L Gene
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]
GeneCards Summary for DNM1L Gene
DNM1L (Dynamin 1-Like) is a Protein Coding gene. Diseases associated with DNM1L include lethal encephalopathy due to mitochondrial and peroxisomal fission defect and encephalopahty, lethal, due to defective mitochondrial peroxisomal fission. Among its related pathways are Cytoskeletal Signaling and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is MX1.
UniProtKB/Swiss-Prot for DNM1L Gene
Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Also required for mitochondrial fission during mitosis. Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles. Required for programmed necrosis execution
Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed