Gene: MYH2

Alternate names for this Gene: IBM3|MYH2A|MYHSA2|MYHas8|MYPOP|MyHC-2A|MyHC-IIa

Gene Summary: Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: myosin heavy chain 2

Type of Gene: protein-coding

Gene: MYHAS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs121434589 in MYH2;MYHAS gene and INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT PMID 11114175 2000 Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

PMID 25313375 2014 Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

PMID 24193343 2014 Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

PMID 20418530 2010 Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

PMID 23388406 2013 MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

rs34161789 in MYH2;MYHAS gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.