Search for a gene
MYH3 - myosin heavy chain 3
- Synonym(s) : HEMHC, muscle embryonic myosin heavy chain 3, MYHC-EMB, MYHSE1, myosin, skeletal, heavy chain, embryonic 1, SMHCE
- Previous symbols and names : myosin, heavy polypeptide 3, skeletal muscle, embryonic
- Type : gene with protein product
- Chromosomal location : 17p13.1
- OMIM: 160720
- HGNC: 7573
- UniProtKB: P11055
- Genatlas: MYH3
- GenCC: MYH3
- Ensembl: ENSG00000109063
- IUPHAR-DB: -
- Reactome: P11055
- LOVD: MYH3
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant multiple pterygium syndrome
ORPHA:65743 
- Disease-causing germline mutation(s) in Autosomal recessive multiple pterygium syndrome
ORPHA:2990 - Disease-causing germline mutation(s) in Distal arthrogryposis type 1
ORPHA:1146 - Disease-causing germline mutation(s) in Freeman-Sheldon syndrome
ORPHA:2053 - Disease-causing germline mutation(s) in Sheldon-Hall syndrome
ORPHA:1147 - Disease-causing germline mutation(s) in Spondylocarpotarsal synostosis
ORPHA:3275
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.