功能： disease:Defects in MYH8 are a cause of Carney complex variant [MIM:608837]. Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.,disease:Defects in MYH8 are a cause of trismus-pseudocamptodactyly syndrome [MIM:158300]; also called Hecht-Beals or Dutch-Kentucky syndrome. The trismus-pseudocamptodactyly syndrome is a hereditary distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability. Many patients require surgical correction of contractures.,domain:The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.,function:Muscle contraction.,miscellaneous:Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).,similarity:Contains 1 IQ domain.,similarity:Contains 1 myosin head-like domain.,subcellular location:Thick filaments of the myofibrils.,subunit:Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, myofibril. Thick filaments of the myofibrils.
组织表达： Skeletal muscle,
科研货号： PLA006757
MYH8 Polyclonal Antibody
Catalog NoPLA006757
Product information
基因名称： MYH8
蛋白名称： Myosin-8 (Myosin heavy chain 8) (Myosin heavy chain, skeletal muscle, perinatal) (MyHC-perinatal)
功能： disease:Defects in MYH8 are a cause of Carney complex variant [MIM:608837]. Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.,disease:Defects in MYH8 are a cause of trismus-pseudocamptodactyly syndrome [MIM:158300]; also called Hecht-Beals or Dutch-Kentucky syndrome. The trismus-pseudocamptodactyly syndrome is a hereditary distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability. Many patients require surgical correction of contractures.,domain:The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.,function:Muscle contraction.,miscellaneous:Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).,similarity:Contains 1 IQ domain.,similarity:Contains 1 myosin head-like domain.,subcellular location:Thick filaments of the myofibrils.,subunit:Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, myofibril. Thick filaments of the myofibrils.
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