MYBPC1, Official Symbol MYBPC1provided by HGNC Official Full Name myosin binding protein C1provided by HGNC Primary source HGNC:HGNC:7549 See related Ensembl:ENSG00000196091 MIM:160794; AllianceGenome:HGNC:7549 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LCCS4; CMYP16; 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 See more Orthologs mouse all