Gene Symbol | MYBPC1 |
Entrez Gene ID | 4604 |
Full Name | myosin binding protein C, slow type |
Synonyms | LCCS4,MYBPCC,MYBPCS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis, distal, type 1B, 614335 (3); Lethal congenital contracture syndrome 4, 614915 (3) |