MYH3

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MYH3
Identifiers
Aliases MYH3, HEMHC, MYHC-EMB, MYHSE1, SMHCE, DA2A, DA2B, DA8, myosin, heavy chain 3, skeletal muscle, embryonic
External IDs MGI: 1339709 HomoloGene: 20553 GeneCards: 4621
RNA expression pattern
PBB GE MYH3 205940 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002470

NM_001099635

RefSeq (protein)

NP_002461.2

NP_001093105.1

Location (UCSC) Chr 17: 10.63 – 10.66 Mb Chr 11: 67.08 – 67.1 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

  1. ^ Eller M, Stedman HH, Sylvester JE, Fertels SH, Rubinstein NA, Kelly AM, Sarkar S (May 1989). "Nucleotide sequence of full length human embryonic myosin heavy chain cDNA". Nucleic Acids Research 17 (9): 3591–2. doi:10.1093/nar/17.9.3591. PMC 317805. PMID 2726495. 
  2. ^ a b "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic". 
  3. ^ Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB (Jun 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. doi:10.2106/JBJS.J.02004. PMC 3102311. PMID 21531865. 

Further reading[edit]