myosin heavy chain 6; myosin-6; myosin heavy chain, cardiac muscle alpha isoform; MyHC-alpha (MYH6, MYHCA)

Function

• muscle contraction
• myosin heavy chain

Structure

• muscle myosin is a hexameric protein that consists of
  • 2 myosin heavy chain subunits
  • 2 myosin essential light chain subunits
  • 2 myosin regulatory light chain subunits
• each myosin heavy chain can be split into 1 light meromyosin & 1 heavy meromyosin; it can later be split further into 2 globular subfragments (S1) & 1 rod-shaped subfragment (S2)
• rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils
• contains 1 IQ domain
• contains 1 myosin head-like domain

Compartment

• cytoplasm, myofibril
• thick filaments of the myofibrils

Pathology

• defects in MYH6 are a cause of
  • familial hypertrophic cardiomyopathy type 1
  • atrial septal defect type 3

Notes

• the cardiac alpha isoform is a 'fast' ATPase myosin
• the beta isoform is a 'slow' ATPase

More general terms

• myosin heavy chain

Additional terms

• myosin
• myosin-6; unconventional myosin-6 (MYO6, KIAA0389)

Database

• UniProt: http://www.uniprot.org/uniprot/P13533.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4624
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4624
• OMIM: https://mirror.omim.org/entry/160710
• OMIM: https://mirror.omim.org/entry/192600