Product Overview
Description
CLPP-00150757 is recombinant human MYH3 protein
Applications
ELISA, SDS-PAGE, Western Blot
Protein Length
Protein fragment
Nature
Recombinant Protein
Sequence
SSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKVTVETEDNRTLVVKPEDVYAMNPPKFDRIEDMAMLTHLNEP
Predicted Molecular Weight
37 kDa including tags
Sequence Similarities
Contains 1 IQ domain. Contains 1 myosin head-like domain.
Target Information
Alternative Names
Embryonic; fast skeletal muscle; HEMHC; Muscle embryonic myosin heavy chain; Muscle embryonic myosin heavy chain 3; MYH 3; Myh3; MYH3_HUMAN; MYHC EMB; MYHSE 1; MYHSE1; Myosin heavy chain; Myosin heavy chain 3; Myosin heavy chain 3 skeletal muscle embryonic; Myosin heavy chain fast skeletal muscle embryonic; Myosin Heavy Polypeptide 3; Myosin heavy polypeptide 3 skeletal muscle embryonic; Myosin skeletal heavy chain embryonic 1; Myosin-3; SMHCE
Protein Function
Muscle contraction.
Involvement in Disease
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.
Shipping & Handling
Shipping
Shipped on dry ice.
Constituents
0.3% Glutathione, 0.79% Tris HCl.
