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Open Access Articles- Top Results for MYH3

MYH3

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Identifiers
SymbolsMYH3 ; HEMHC; MYHC-EMB; MYHSE1; SMHCE
External IDsOMIM160720 MGI1339709 HomoloGene20553 GeneCards: MYH3 Gene
RNA expression pattern
File:PBB GE MYH3 205940 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez462117883
EnsemblENSG00000109063ENSMUSG00000020908
UniProtP11055P13541
RefSeq (mRNA)NM_002470NM_001099635
RefSeq (protein)NP_002461NP_001093105
Location (UCSC)Chr 17:
10.53 – 10.56 Mb
Chr 11:
67.08 – 67.1 Mb
PubMed search[1][2]

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.[1][2]

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. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes,[3] Freeman-Sheldon syndrome and Sheldon-Hall syndrome.[2]

References

  1. ^ Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S (Jun 1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA". Nucleic Acids Res 17 (9): 3591–2. PMC 317805. PMID 2726495. doi:10.1093/nar/17.9.3591. 
  2. ^ a b "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic". 
  3. ^ Alvarado, DM; Buchan, JG, Gurnett, CA, Dobbs, MB (Apr 29, 2011). "Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1". The Journal of bone and joint surgery. American volume 93 (11): 1045–50. PMC 3102311. PMID 21531865. doi:10.2106/JBJS.J.02004. 

Further reading

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