myosin heavy chain 8; myosin-8; myosin heavy chain, skeletal muscle, perinatal; MyHC-perinatal (MYH8)

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

Expression

found in perinatal tissue

Pathology

• defects in MYH8 are a cause
  • Carney complex variant
  • trismus-pseudocamptodactyly syndrome

More general terms

• myosin heavy chain

Additional terms

• myosin

Database

• UniProt: http://www.uniprot.org/uniprot/P13535.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4626
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4626
• OMIM: https://mirror.omim.org/entry/158300
• OMIM: https://mirror.omim.org/entry/160741
• OMIM: https://mirror.omim.org/entry/608837