Full name: myosin binding protein C1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LCCS4; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C

Summary: This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Expression: Biased expression in prostate (RPKM 75.7), esophagus (RPKM 49.2) and 1 other tissue

Gene size: 100871bp

Exon count: 34