Identity
HGNC
LOCATION
12q23.2
LOCUSID
ALIAS
LCCS4,MYBPCC,MYBPCS,MYOTREM,ssMyBP-C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4604
MIM: 160794
HGNC: 7549
Ensembl: ENSG00000196091
Variants:
dbSNP: 4604
ClinVar: 4604
TCGA: ENSG00000196091
COSMIC: MYBPC1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38185014 | 2024 | Congenital tremor and myopathy secondary to novel MYBPC1 variant. | 1 |
| 38185014 | 2024 | Congenital tremor and myopathy secondary to novel MYBPC1 variant. | 1 |
| 36539363 | 2023 | MYBPC1 is a key regulator for laryngeal carcinoma formation. | 0 |
| 37392669 | 2023 | A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. | 0 |
| 36539363 | 2023 | MYBPC1 is a key regulator for laryngeal carcinoma formation. | 0 |
| 37392669 | 2023 | A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. | 0 |
| 31025394 | 2019 | Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. | 17 |
| 31264822 | 2019 | Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. | 12 |
| 31025394 | 2019 | Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. | 17 |
| 31264822 | 2019 | Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. | 12 |
| 26661508 | 2016 | Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. | 12 |
| 26831109 | 2016 | C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation. | 38 |
| 26661508 | 2016 | Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. | 12 |
| 26831109 | 2016 | C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation. | 38 |
| 25679999 | 2015 | Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. | 17 |
Citation
Dessen P
MYBPC1 (myosin binding protein C1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54481/mybpc1-(myosin-binding-protein-c1)
