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MYBPC2

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MYBPC2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MYBPC2 , MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2
External IDs OMIM: 160793; MGI: 1336170; HomoloGene: 3331; GeneCards: MYBPC2; OMA:MYBPC2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004533

NM_146189

RefSeq (protein)

NP_004524

NP_666301

Location (UCSC) Chr 19: 50.43 – 50.47 Mb Chr 7: 44.15 – 44.17 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin binding protein C, fast type is a protein that in humans is encoded by the MYBPC2 gene. [5]

Contents

Function

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. [5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000086967 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038670 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: Myosin binding protein C, fast type".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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