9pfe

NMR structure of slow skeletal Myosin Binding Protein-C M-domain tri-helix bundle

spinqualitylabelsall models 9pfe Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Structural highlights 9pfe is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance. Method: Solution NMR, models Resources: FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT Disease MYPC1_HUMAN Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:614335. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis. Function MYPC1_HUMAN Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

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