MYH3 Polyclonal Antibody

developmental stage:Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle.,disease:Defects in MYH3 are the cause of distal arthrogryposis type 2A (DA2A) [MIM:193700]; also known as Freeman-Sheldon syndrome (FSS). Distal arthrogryposis is a clinically and genetically heterogeneous group of disorders characterized by bone anomalies and joint contractures of the hands and feet, causing medially overlapping fingers, clenched fists, ulnar deviation of fingers, camptodactyly and positional foot deformities. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA2A is the most severe form of distal arthrogryposis. Affected individuals have contractures of the orofacial muscles, characterized by microstomia with pouting lips, H-shaped dimpling of the chin, deep nasolabial folds, and blepharophimosis. Dysphagia, failure to thrive, growth deficit, and life-threatening respiratory complications (caused by structural anomalies of the oropharynx and upper airways) are frequent. Inheritance is autosomal dominant.,disease:Defects in MYH3 are the cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as Sheldon-Hall syndrome (SHS) or arthrogryposis multiplex congenita distal type 2B (AMCD2B). DA2B is a form of inherited multiple congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin. DA2B is the most common of the distal arthrogryposis syndromes. It is similar to DA2A but the facial contractures are less dramatic.,domain:The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.,function:Muscle contraction.,miscellaneous:Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).,similarity:Contains 1 IQ domain.,similarity:Contains 1 myosin head-like domain.,subcellular location:Thick filaments of the myofibrils.,subunit:Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).,