MYH3

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MYH3
Identifiers
AliasesMYH3, HEMHC, MYHC-EMB, MYHSE1, SMHCE, DA2A, DA2B, DA8, myosin, heavy chain 3, skeletal muscle, embryonic, myosin heavy chain 3, CPSKF1A, DA2B3, CPSKF1B
External IDsOMIM: 160720 MGI: 1339709 HomoloGene: 20553 GeneCards: MYH3
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for MYH3
Genomic location for MYH3
Band17p13.1Start10,628,526 bp[1]
End10,657,309 bp[1]
RNA expression pattern
PBB GE MYH3 205940 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002470

NM_001099635

RefSeq (protein)

NP_002461

NP_001093105

Location (UCSC)Chr 17: 10.63 – 10.66 MbChr 11: 67.08 – 67.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.[5][6]

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,[7] Freeman–Sheldon syndrome and Sheldon–Hall syndrome.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109063 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020908 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: MYH3 myosin, heavy chain 3, skeletal muscle, embryonic".
  7. ^ 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]