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MYH6
Myosin heavy chain, α isoform (MHC-α) is a protein that in humans is encoded by the ''MYH6'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4624 )〕 This isoform is distinct from the ventricular/slow myosin heavy chain isoform, MYH7, referred to as MHC-β. MHC-α isoform is expressed predominantly in human cardiac atria, exhibiting only minor expression in human cardiac ventricles. It is the major protein comprising the cardiac muscle thick filament, and functions in cardiac muscle contraction. Mutations in ''MYH6'' have been associated with late-onset hypertrophic cardiomyopathy, atrial septal defects and sick sinus syndrome.
== Structure ==
MHC-α is a 224 kDa protein composed of 1939 amino acids.〔(【引用サイトリンク】url=http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=P13533 )〕 The ''MYH6'' gene is located on chromosome 14q12, approximately ~4kb downstream of the ''MYH7'' gene encoding the other major cardiac muscle isoform of myosin heavy chain, MHC-β. MHC-α is a hexameric, asymmetric motor forming the bulk of the thick filament in cardiac muscle; it is the predominant isoform expressed in human cardiac atria, and the lesser expressed isoform (7%) expressed in human cardiac ventricles. MHC-α is composed of N-termimal globular heads (20 nm) that project laterally, and alpha helical tails (130 nm) that dimerize and multimerize into a coiled-coil motif to form the light meromyosin (LMM), thick filament rod. The 9 nm alpha-helical neck region of each MHC-α head non-covalently binds two light chains, atrial essential light chain (MYL4) and atrial regulatory light chain (MYL7). Approximately 300 myosin molecules constitute one thick filament.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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