NP_002461.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
223,905 Da
NCBI Official Full Name
myosin-3
NCBI Official Synonym Full Names
myosin heavy chain 3
NCBI Official Synonym Symbols
DA8; DA2A; DA2B; HEMHC; SMHCE; MYHSE1; MYHC-EMB [Similar Products]
NCBI Protein Information
myosin-3
UniProt Protein Name
Myosin-3
UniProt Synonym Protein Names
Muscle embryonic myosin heavy chain; Myosin heavy chain 3; Myosin heavy chain, fast skeletal muscle, embryonic; SMHCE
UniProt Entry Name
MYH3_HUMAN
NCBI Summary for MYH3
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]
UniProt Comments for MYH3
MYH3: Muscle contraction. Defects in MYH3 are the cause of distal arthrogryposis type 2A (DA2A); also known as Freeman-Sheldon syndrome (FSS). Distal arthrogryposis is a clinically and genetically heterogeneous group of disorders characterized by bone anomalies and joint contractures of the hands and feet, causing medially overlapping fingers, clenched fists, ulnar deviation of fingers, camptodactyly and positional foot deformities. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA2A is the most severe form of distal arthrogryposis. Affected individuals have contractures of the orofacial muscles, characterized by microstomia with pouting lips, H-shaped dimpling of the chin, deep nasolabial folds, and blepharophimosis. Dysphagia, failure to thrive, growth deficit, and life-threatening respiratory complications (caused by structural anomalies of the oropharynx and upper airways) are frequent. Inheritance is autosomal dominant. Defects in MYH3 are the cause of distal arthrogryposis type 2B (DA2B); also known as Sheldon-Hall syndrome (SHS) or arthrogryposis multiplex congenita distal type 2B (AMCD2B). DA2B is a form of inherited multiple congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin. DA2B is the most common of the distal arthrogryposis syndromes. It is similar to DA2A but the facial contractures are less dramatic.
Protein type: Motor; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 17p13.1
Cellular Component: cytosol
Molecular Function: actin filament binding; ATPase activity, coupled; microfilament motor activity; myosin phosphatase activity
Biological Process: ATP metabolic process; embryonic limb morphogenesis; muscle development; muscle filament sliding; skeletal muscle contraction
Disease: Arthrogryposis, Distal, Type 2a; Arthrogryposis, Distal, Type 2b; Arthrogryposis, Distal, Type 8
Research Articles on MYH3
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with anti-MYH3 antibody
Diseases associated with anti-MYH3 antibody
Organs/Tissues associated with anti-MYH3 antibody
|