MYBPC2

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

MYBPC2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYBPC2, MYBPC, MYBPCF, myosin binding protein C, fast type, fsMyBP-C, myosin binding protein C2
External IDsOMIM: 160793 MGI: 1336170 HomoloGene: 3331 GeneCards: MYBPC2
Orthologs
SpeciesHumanMouse
Entrez

4606

233199

Ensembl

ENSG00000086967

ENSMUSG00000038670

UniProt

Q14324

Q5XKE0

RefSeq (mRNA)

NM_004533

NM_146189

RefSeq (protein)

NP_004524

NP_666301

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

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. GRCh38: Ensembl release 89: ENSG00000086967 - Ensembl, May 2017
  2. 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. "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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