Myosin-Binding Protein C, Cardiac

Alternative Names

  • MYBPC3
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OMIM Number

600958

NCBI Gene ID

4607

Uniprot ID

Q14896

Length

21,297 bases

No. of Exons

35

No. of isoforms

2

Protein Name

Myosin-binding protein C, cardiac-type

Molecular Mass

140762 Da

Amino Acid Count

1274

Genomic Location

chr11:47,331,406-47,352,702

Gene Map Locus
11p11.2

Description

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000256.3:c.776delinsTTUnited Arab EmiratesNC_000011.10:g.47347902delinsAALikely PathogenicLeft Ventricular Noncompaction 10NG_007667.1:g.9801delinsTT; NM_000256.3:c.776delinsTT; NP_000247.2:p.Ala259ValfsTer27
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