MYH8

MYH8
Identifiers
Aliases	MYH8, MyHC-peri, MyHC-pn, gtMHC-F, DA7, myosin, heavy chain 8, skeletal muscle, perinatal, myosin heavy chain 8
External IDs	OMIM: 160741; MGI: 1339712; HomoloGene: 68256; GeneCards: MYH8; OMA:MYH8 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	10,421,950 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	67,199,460 bp
RNA expression pattern
	Top expressed in
	vastus lateralis muscle; ; Skeletal muscle tissue of rectus abdominis; ; triceps brachii muscle; ; Skeletal muscle tissue of biceps brachii; ; tibialis anterior muscle; ; deltoid muscle; ; glutes; ; testicle; ; kidney tubule; ; gastrocnemius muscle;
	Top expressed in
	masseter muscle; ; esophagus; ; fossa; ; temporal muscle; ; human fetus; ; extraocular muscle; ; internal carotid artery; ; ankle joint; ; muscle of thigh; ; condyle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	myosin light chain binding; nucleotide binding; microfilament motor activity; structural constituent of muscle; ATPase activity; cytoskeletal motor activity; actin binding; ATP binding; calmodulin binding; myosin phosphatase activity; actin filament binding; microtubule motor activity; microtubule binding;
Cellular component	cytoplasm; myosin filament; cytosol; muscle myosin complex; sarcomere; myofibril; myosin complex;
Biological process	skeletal muscle contraction; ATP metabolic process; muscle contraction; muscle filament sliding; protein dephosphorylation; microtubule-based movement;
	Sources:Amigo / QuickGO
Orthologs
	4626
	17885
	ENSG00000133020
	ENSMUSG00000055775
	P13535
	P13542
	NM_002472
	NM_177369
	NP_002463
	NP_796343
	Wikidata
View/Edit Human	View/Edit Mouse

Myosin-8 is a protein that in humans is encoded by the MYH8 gene.^[5]^[6]

Mutations in MYH8 are associated with Trismus pseudocamptodactyly syndrome.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000133020 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000055775 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Karsch-Mizrachi I, Feghali R, Shows TB, Leinwand LA (Aug 1990). "Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA". Gene. 89 (2): 289–94. doi:10.1016/0378-1119(90)90020-R. PMID 2373371.
^ "Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal".

Bober E, Buchberger-Seidl A, Braun T, et al. (1990). "Identification of three developmentally controlled isoforms of human myosin heavy chains". Eur. J. Biochem. 189 (1): 55–65. doi:10.1111/j.1432-1033.1990.tb15459.x. PMID 1691980.
Bober E, Lyons GE, Braun T, et al. (1991). "The muscle regulatory gene, Myf-6, has a biphasic pattern of expression during early mouse development". J. Cell Biol. 113 (6): 1255–65. doi:10.1083/jcb.113.6.1255. PMC 2289041. PMID 2045411.
Feghali R, Leinwand LA (1989). "Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain". J. Cell Biol. 108 (5): 1791–7. doi:10.1083/jcb.108.5.1791. PMC 2115547. PMID 2715179.
Jullian EH, Kelly AM, Pompidou AJ, et al. (1995). "Characterization of a human perinatal myosin heavy-chain transcript". Eur. J. Biochem. 230 (3): 1001–6. doi:10.1111/j.1432-1033.1995.tb20648.x. PMID 7601129.
Soussi-Yanicostas N, Whalen RG, Petit C (1993). "Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome". Hum. Mol. Genet. 2 (5): 563–9. doi:10.1093/hmg/2.5.563. PMID 8518795.
Veugelers M, Bressan M, McDermott DA, et al. (2004). "Mutation of perinatal myosin heavy chain associated with a Carney complex variant". N. Engl. J. Med. 351 (5): 460–9. doi:10.1056/NEJMoa040584. PMID 15282353.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Toydemir RM, Chen H, Proud VK, et al. (2007). "Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8". Am. J. Med. Genet. A. 140 (22): 2387–93. doi:10.1002/ajmg.a.31495. PMID 17041932. S2CID 1775227.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000133020 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000055775 – 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.

[pmid2373371-5] Karsch-Mizrachi I, Feghali R, Shows TB, Leinwand LA (Aug 1990). "Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA". Gene. 89 (2): 289–94. doi:10.1016/0378-1119(90)90020-R. PMID 2373371.

[entrez-6] "Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal".

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MYH8

References

Further reading

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