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
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19q13.33Start50,432,892 bp[1]
End50,466,321 bp[1]
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: 44.5 – 44.52 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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.