MYO1E Antibody – Rabbit Polyclonal

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]

MYO1E: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14. Defects in MYO1E are the cause of focal segmental glomerulosclerosis type 6 (FSGS6). A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.

Protein type: Motor; Motility/polarity/chemotaxis; Actin-binding

Chromosomal Location of Human Ortholog: 15q21-q22

Cellular Component: actin cytoskeleton; adherens junction; brush border; clathrin-coated endocytic vesicle; cytoplasm; cytoskeleton; intercellular junction; myosin complex

Molecular Function: actin filament binding; ATP binding; ATPase activity, coupled; calmodulin binding; microfilament motor activity; motor activity; phosphoinositide binding; protein binding

Biological Process: actin filament-based movement; endocytosis; glomerular basement membrane development; glomerular filtration; in utero embryonic development; nitrogen compound metabolic process; platelet-derived growth factor receptor signaling pathway; post-embryonic hemopoiesis; vasculogenesis

Disease: Focal Segmental Glomerulosclerosis 6