MYH1

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Description

The MYH1 (myosin heavy chain 1) is a protein-coding gene located on chromosome 17.

MYH1, also known as 'striated muscle myosin heavy chain 1', is a protein encoded by the MYH1 gene in humans. It's primarily found in fast type IIX/D muscle fibers of vertebrates and is unique to striated muscle. This gene encodes a class II myosin with a long coiled coil tail that dimerizes. It's important to distinguish it from 'Myosin 1', which is encoded by the MYO1 family of genes (MYO1A-MYO1H). Class I MYO1 genes are involved in various cell types and are single-headed membrane-binding myosins without a long coiled coil tail. Myosin, generally, is a key protein for converting chemical energy into mechanical energy through ATP hydrolysis. Class II Myosins are hexameric proteins, consisting of a pair of myosin heavy chains (MYH) and two pairs of different light chains. The MYH genes form a multigene family. In mammals, at least ten different myosin heavy chain (MYH) isoforms have been identified in striated, smooth, and rarely in non-muscle cells. These isoforms show regulated expression based on location and developmental stage.

MYH1 is involved in muscle contraction.

MYH1 is also known as HEL71, MYHSA1, MYHa, MyHC-2X/D, MyHC-2x.

Associated Diseases

• Parkinson disease
• Alzheimer disease
• multiple sclerosis
• lysosomal storage disease
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
• autosomal dominant limb-girdle muscular dystrophy type 1F
• progressive scapulohumeroperoneal distal myopathy
• nemaline myopathy 5B, autosomal recessive, childhood-onset
• myopathy, proximal, and ophthalmoplegia
• myofibrillar myopathy 11
• neuronopathy, distal hereditary motor, autosomal recessive 3
• myopathy, centronuclear, 6, with fiber-type disproportion
• neuronopathy, distal hereditary motor, autosomal dominant 8
• spinal muscular atrophy, infantile, James type
• nemaline myopathy 7