MYH8

From Wikipedia, the free encyclopedia

Myosin, heavy chain 8, skeletal muscle, perinatal

Identifiers

MYH8; MyHC-peri; MyHC-pn

External IDs

OMIM: 160741 MGI: 1339712 HomoloGene: 68256

Gene ontology
Molecular Function:	• nucleotide binding • motor activity • actin binding • calmodulin binding • ATP binding • structural constituent of muscle
Cellular Component:	• muscle myosin complex • striated muscle thick filament • myosin complex
Biological Process:	• striated muscle contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002472 (mRNA)
NP_002463 (protein)

NM_177369 (mRNA)
NP_796343 (protein)

Location

Chr 17: 10.23 - 10.27 Mb

Chr 11: 67.09 - 67.12 Mb

Pubmed search

[1]

[2]

Myosin, heavy chain 8, skeletal muscle, perinatal, also known as MYH8, is a human gene.^[1]

[edit] References

^ Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal.

[edit] 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. 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. PMID 2045411.
Karsch-Mizrachi I, Feghali R, Shows TB, Leinwand LA (1990). "Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA.". Gene 89 (2): 289–94. PMID 2373371.
Feghali R, Leinwand LA (1989). "Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain.". J. Cell Biol. 108 (5): 1791–7. 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. 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. 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. 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.