MYBPC1 myosin binding protein C1
Gene ID: 4604, updated on 3-Apr-2024Gene type: protein coding
Also known as: LCCS4; CMYP16; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C
- See all available tests in GTR for this gene
- Go to complete Gene record for MYBPC1
- Go to Variation Viewer for MYBPC1 variants
Summary
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis, distal, type 1B | See labs |
| Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
| Lethal congenital contracture syndrome 4 | See labs |
| Myopathy, congenital, with tremor | See labs |
Genomic context
- Location:
- 12q23.2
- Sequence:
- Chromosome: 12; NC_000012.12 (101594971..101695841)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYBPC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MYBPC1 @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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