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Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3] [4] Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type ...
Myosin VI is an unconventional myosin motor, which is primarily processive as a dimer, but also acts as a nonprocessive monomer. It walks along actin filaments, travelling towards the pointed end (- end) of the filaments. [44] Myosin VI is thought to transport endocytic vesicles into the cell. [45]
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) also known as the regulatory light chain of myosin (RLC) is a protein that in humans is encoded by the MYL2 gene. [ 5 ] [ 6 ] This cardiac ventricular RLC isoform is distinct from that expressed in skeletal muscle ( MYLPF ), smooth muscle ( MYL12B ) and cardiac atrial ...
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. [ 5 ] [ 6 ] [ 7 ] In humans it is coded for by the MYO5A gene .
Creatine kinase in the blood may be high in health and disease. Exercise increases the outflow of creatine kinase to the blood stream for up to a week, and this is the most common cause of high CK in blood. [16] Furthermore, high CK in the blood may be related to high intracellular CK such as in persons of African descent. [17] Finally, high CK ...
17883 Ensembl ENSG00000109063 ENSMUSG00000020908 UniProt P11055 P13541 RefSeq (mRNA) NM_002470 NM_001099635 RefSeq (protein) NP_002461 NP_001093105 Location (UCSC) Chr 17: 10.63 – 10.66 Mb Chr 11: 66.97 – 66.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Myosin-3 is a protein that in humans is encoded by the MYH3 gene. Function Myosin is a major contractile protein which ...
MYLK’s contain a catalytic core domain with an ATP binding domain. On either sides of the catalytic core sit calcium ion/calmodulin binding sites. Binding of calcium ion to this domain increases the affinity of MYLK binding to myosin light chain. This myosin binding domain is located at the C-Terminus end of the kinase.
Myosin-9 also known as myosin, heavy chain 9, non-muscle or non-muscle myosin heavy chain IIa (NMMHC-IIA) is a protein which in humans is encoded by the MYH9 gene. [5] [6]Non-muscle myosin IIA (NM IIA) is expressed in most cells and tissues where it participates in a variety of processes requiring contractile force, such as cytokinesis, cell migration, polarization and adhesion, maintenance of ...