DNM1

Template:Short description Template:Cs1 config Template:Infobox gene Dynamin-1 is a protein that in humans is encoded by the DNM1 gene.

Function

Dynamin possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the dynamin, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described.

Role in disease

De novo mutations in DNM1 have been associated with a severe form of childhood epilepsy called developmental and epileptic encephalopathy. Most pathogenic variants are missense variants, and have been shown to impair synaptic vesicle endocytosis in a dominant negative manner.

Interactions

DNM1 has been shown to interact with:

• AMPH,
• FNBP1,
• Grb2
• NCK1,
• PACSIN1, and
• SH3GL2.