MYBPC2 | |||||||||||||||||
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Identifiers | |||||||||||||||||
Aliases | MYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type | ||||||||||||||||
External IDs | MGI: 1336170 HomoloGene: 3331 GeneCards: MYBPC2 | ||||||||||||||||
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Orthologs | |||||||||||||||||
Species | Human | Mouse | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr 19: 50.43 – 50.47 Mb | Chr 7: 44.5 – 44.52 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene.
This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively.