THC Science

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
	Top expressed in
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	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.

[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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