MYH3 myosin heavy chain 3
Gene ID: 4621, updated on 10-Mar-2024Gene type: protein coding
Also known as: DA8; DA2A; DA2B; DA2B3; HEMHC; SMHCE; MYHSE1; CPSFS1A; CPSFS1B; CPSKF1A; CPSKF1B; MYHC-EMB
- See all available tests in GTR for this gene
- Go to complete Gene record for MYH3
- Go to Variation Viewer for MYH3 variants
Summary
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arthrogryposis, distal, type 2B3 | See labs |
| Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | See labs |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | See labs |
| Freeman-Sheldon syndrome | See labs |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (10628532..10678417, complement)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYH3 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
- MYH3 database
- 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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