MYH3

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: MYH3
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

4621

17883

Ensembl

ENSG00000109063

ENSMUSG00000020908

UniProt

P11055

P13541

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 HumanView/Edit Mouse

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.[3][4]

Function

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,[5] Freeman-Sheldon syndrome and Sheldon-Hall syndrome.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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 317805Freely accessible. PMID 2726495.
  4. 1 2 "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
  5. 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 3102311Freely accessible. PMID 21531865.

Further reading


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