MYH1 Chromosome 17

Myosin heavy chain 1
1 variant 1 Health Risk

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What This Gene Does
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. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000109061
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS149164396 Health Risk Conflicting classifications of pathogenicity
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