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) [1] Band 17p13.1 Start 10,390,322 bp [1] End 10,421,950 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B3|11 40.59 cM Start 67,167,950 bp [2] End 67,199,460 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 4626 17885 Ensembl ENSG00000133020 ENSMUSG00000055775 UniProt P13535 P13542 RefSeq (mRNA) NM_002472 NM_177369 RefSeq (protein) NP_002463 NP_796343 Location (UCSC) Chr 17: 10.39 – 10.42 Mb Chr 11: 67.17 – 67.2 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000133020 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal".

Further reading

• 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.