| MYH3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | MYH3 , HEMHC, MYHC-EMB, MYHSE1, SMHCE, DA2A, DA2B, DA8, myosin, heavy chain 3, skeletal muscle, embryonic, myosin heavy chain 3, CPSKF1A, DA2B3, CPSKF1B, CPSFS1B, CPSFS1A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 160720 MGI: 1339709 HomoloGene: 20553 GeneCards: MYH3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Myosin-3 is a protein that in humans is encoded by the MYH3 gene. [5] [6]
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, [7] Freeman–Sheldon syndrome and Sheldon–Hall syndrome. [6]
The MYH16 gene encodes a protein called myosin heavy chain 16, which is a muscle protein in mammals. At least in primates, it is a specialized muscle protein found only in the temporalis and masseter muscles of the jaw. Myosin heavy chain proteins are important in muscle contraction, and if they are missing, the muscles will be smaller. In non-human primates, MYH16 is functional and the animals have powerful jaw muscles. In humans, the MYH16 gene has a mutation that causes the protein not to function. Although the exact importance of this change in accounting for differences between humans and other apes is not yet clear, such a change may be related to increased brain size and finer control of the jaw, which facilitates speech. It is not clear how the MYH16 mutation relates to other changes to the jaw and skull in early human evolution.
MYH7 is a gene encoding a myosin heavy chain beta (MHC-β) isoform expressed primarily in the heart, but also in skeletal muscles. This isoform is distinct from the fast isoform of cardiac myosin heavy chain, MYH6, referred to as MHC-α. MHC-β is the major protein comprising the thick filament in cardiac muscle and plays a major role in cardiac muscle contraction.
Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.
Myosin-9 also known as myosin, heavy chain 9, non-muscle or non-muscle myosin heavy chain IIa (NMMHC-IIA) is a protein which in humans is encoded by the MYH9 gene.
Myosin-10 also known as myosin heavy chain 10 or non-muscle myosin IIB (NM-IIB) is a protein that in humans is encoded by the MYH10 gene. Non-muscle myosins are expressed in a wide variety of tissues, but NM-IIB is the only non-muscle myosin II isoform expressed in cardiac muscle, where it localizes to adherens junctions within intercalated discs. NM-IIB is essential for normal development of cardiac muscle and for integrity of intercalated discs. Mutations in MYH10 have been identified in patients with left atrial enlargement.
Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
Myosin heavy chain, α isoform (MHC-α) is a protein that in humans is encoded by the MYH6 gene. This isoform is distinct from the ventricular/slow myosin heavy chain isoform, MYH7, referred to as MHC-β. MHC-α isoform is expressed predominantly in human cardiac atria, exhibiting only minor expression in human cardiac ventricles. It is the major protein comprising the cardiac muscle thick filament, and functions in cardiac muscle contraction. Mutations in MYH6 have been associated with late-onset hypertrophic cardiomyopathy, atrial septal defects and sick sinus syndrome.
Myosin essential light chain (ELC), ventricular/cardiac isoform is a protein that in humans is encoded by the MYL3 gene. This cardiac ventricular/slow skeletal ELC isoform is distinct from that expressed in fast skeletal muscle (MYL1) and cardiac atrial muscle (MYL4). Ventricular ELC is part of the myosin molecule and is important in modulating cardiac muscle contraction.
Myosin-2 is a protein that in humans is encoded by the MYH2 gene.
Atrial Light Chain-1 (ALC-1), also known as Essential Light Chain, Atrial is a protein that in humans is encoded by the MYL4 gene. ALC-1 is expressed in fetal cardiac ventricular and fetal skeletal muscle, as well as fetal and adult cardiac atrial tissue. ALC-1 expression is reactivated in human ventricular myocardium in various cardiac muscle diseases, including hypertrophic cardiomyopathy, dilated cardiomyopathy, ischemic cardiomyopathy and congenital heart diseases.
Myosin-1, also known as 'striated muscle myosin heavy chain 1', is a protein that in humans is encoded by the MYH1 gene. This gene is most highly expressed in fast type IIX/D muscle fibres of vertebrates and encodes a protein found uniquely in striated muscle; it is a class II myosin with a long coiled coil tail that dimerizes and should not be confused with 'Myosin 1' encoded by the MYO1 family of genes (MYO1A-MYO1H). Class I MYO1 genes function in many cell types throughout biology and are single-headed membrane-binding myosins that lack a long coiled coil tail.
Myosin-14 is a protein that in humans is encoded by the MYH14 gene.
Myosin light chain 3, skeletal muscle isoform is a protein that in humans is encoded by the MYL1 gene.
Myosin-8 is a protein that in humans is encoded by the MYH8 gene.
Myosin light chain 6B is a protein that in humans is encoded by the MYL6B gene. Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue.
Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene.
Myosin-15 also known as myosin, heavy chain 15 is a protein that in humans is encoded by the MYH15 gene.
Myosin-13 also known as myosin, heavy chain 13 is a protein which in humans is encoded by the MYH13 gene.
Myosin-7B also known as myosin, heavy chain 7B is a protein that in humans is encoded by the MYH7B gene.
Myosin-4 also known as myosin, heavy chain 4 is a protein which in humans is encoded by the MYH4 gene.
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