MYH2 gene

myosin heavy chain 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Sep 2009]

From UniProt:

Muscle contraction. Required for cytoskeleton organization.

From NCBI Gene:

  • Inclusion body myopathy 3

From UniProt:

Myopathy, proximal, and ophthalmoplegia (MYPOP): A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive. [MIM:605637]

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1

Molecular Location: base pairs 10,521,148 to 10,549,700 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1
  • IBM3
  • MYH2A
  • MYHas8
  • MyHC-2A
  • MyHC-IIa
  • MYHSA2
  • MYPOP