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
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	10,421,950 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	67,308,634 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• myosin light chain binding; • nucleotide binding; • microfilament motor activity; • structural constituent of muscle; • ATPase activity; • cellular 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

GRCh38: Ensembl release 89: ENSG00000133020 - Ensembl, May 2017
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.

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[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".

MYH8

References

Further reading