Gene: MYH3

Alternate names for this Gene: CPSFS1A|CPSFS1B|CPSKF1A|CPSKF1B|DA2A|DA2B|DA2B3|DA8|HEMHC|MYHC-EMB|MYHSE1|SMHCE

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: myosin heavy chain 3

Type of Gene: protein-coding

rs121913617 in MYH3 gene and Freeman-Sheldon syndrome PMID 18695058 2008 Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

PMID 16642020 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

PMID 30826400 2019 The ATPase activity of the three FSS mutant MHC proteins are reduced compared to wild type MHC, with the most severe reduction observed in the T178I mutation.

rs6503319 in MYH3 gene and Malaria PMID 19465909 2009 Genome-wide and fine-resolution association analysis of malaria in West Africa.

rs1555527166 in MYH3 gene and Multiple Pterygium Syndrome, Autosomal Dominant PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

PMID 27381093 2016 Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

PMID 29314551 2018 A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

rs16943577 in MYH3 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.