| UniProt Protein Function: | 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: Motility/polarity/chemotaxis; MotorChromosomal Location of Human Ortholog: 17p13.1Cellular Component: sarcomere; muscle myosin complex; cytosolMolecular Function: calmodulin binding; actin filament binding; microfilament motor activity; ATPase activity, coupled; ATP bindingBiological Process: skeletal muscle contraction; muscle development; actin filament-based movement; metabolic process; sarcomere organization; muscle filament sliding; embryonic limb morphogenesisDisease: Arthrogryposis, Distal, Type 8; Arthrogryposis, Distal, Type 2a; Arthrogryposis, Distal, Type 2b |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | P11055 |
| NCBI GenInfo Identifier: | 251757455 |
| NCBI Gene ID: | 4621 |
| NCBI Accession: | P11055.3 |
| UniProt Secondary Accession: | P11055,Q15492 |
| UniProt Related Accession: | P11055 |
| Molecular Weight: | 223,905 Da |
| NCBI Full Name: | Myosin-3 |
| NCBI Synonym Full Names: | myosin, heavy chain 3, skeletal muscle, embryonic |
| NCBI Official Symbol: | MYH3 |
| NCBI Official Synonym Symbols: | HEMHC; SMHCE; MYHSE1; MYHC-EMB |
| NCBI Protein Information: | myosin-3; myosin, skeletal, heavy chain, embryonic 1; myosin heavy chain, fast skeletal muscle, embryonic; myosin, heavy polypeptide 3, skeletal muscle, embryonic |
| 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 |
| Protein Family: | |
| UniProt Gene Name: | MYH3 |
| UniProt Entry Name: | MYH3_HUMAN |
