Gene Symbol | DNM1L |
Entrez Gene ID | 10059 |
Full Name | dynamin 1 like |
Synonyms | DLP1,DRP1,DVLP,DYMPLE,EMPF,EMPF1,HDYNIV,OPA5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3); Optic atrophy 5, 610708 (3) |