Gene: MYHAS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs200662973 in MYHAS;MYH2 gene and INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT PMID 22349865 2012 Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.