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MYBPC3 myosin binding protein C, cardiac [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000256 Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. ORF Sequence $1338.75
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Gene Symbol MYBPC3
Entrez Gene ID 4607
Full Name myosin binding protein C, cardiac
Synonyms CMH4, DKFZp779E1762, FHC, MYBP-C
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p11.2

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 600958

Cardiomyopathy, familial hypertrophic, 4, 115197 (3);

mRNA Protein Product Sequence Price Select
NM_000256, 148596956 NP_000247, 148596957 myosin-binding protein C, cardiac-type Full Length $1475.95
ORF Sequence $1338.75
KEGG
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
WikiPathways
WP383Striated Muscle Contraction
Reactome
REACT_17044Muscle contraction
REACT_16969Striated Muscle Contraction
Homo sapiens (human)MYBPC3NP_000247.2
Pan troglodytes (chimpanzee)MYBPC3XP_508410.4
Macaca mulatta (Rhesus monkey)MYBPC3XP_002808117.1
Canis lupus familiaris (dog)MYBPC3NP_001041571.1
Bos taurus (cattle)MYBPC3NP_001070004.1
Mus musculus (house mouse)Mybpc3NP_032679.2
Rattus norvegicus (Norway rat)Mybpc3NP_001099960.1
Gallus gallus (chicken)MYBPC3NP_990447.1
Danio rerio (zebrafish)mybpc3NP_001037814.2
GeneCards MYBPC3
PDB 2AVG, 1GXE, 2V6H, 2K1M, 3CX2, 1PD6
UniProt Q14896, A5YM48
MIM 600958
Ensembl ENSG00000134571
HGNC 7551
HPRD 02980

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
myosin-binding protein C, cardiac-type
Names
myosin-binding protein C, cardiac-type
C-protein, cardiac muscle isoform

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