Predicted to enable GTP binding activity; GTPase activity; and microtubule binding activity. Involved in apoptotic mitochondrial changes; embryo development; and mitochondrial fission. Located in mitochondrion. Expressed in several structures, including germ line; non-striated muscle; preanal ganglion; rectal muscle; and somatic nervous system. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; encephalopathy due to defective mitochondrial and peroxisomal fission 1; optic atrophy 5; and pulmonary fibrosis. Is an ortholog of human DNM1L (dynamin 1 like).
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
Predicted to enable GTP binding activity and GTPase activity. Is an ortholog of C. elegans drp-1. In C. elegans, drp-1 is involved in apoptotic mitochondrial changes; embryo development; and mitochondrial fission.
Predicted to enable GTP binding activity and GTPase activity. Is an ortholog of C. elegans drp-1. In C. elegans, drp-1 is involved in apoptotic mitochondrial changes; embryo development; and mitochondrial fission.
Predicted to enable GTP binding activity and GTPase activity. Is an ortholog of C. elegans drp-1. In C. elegans, drp-1 is involved in apoptotic mitochondrial changes; embryo development; and mitochondrial fission.