MYH9

MYH9
Myosin, heavy chain 9, non-muscle
Identifiers
Symbols MYH9; DFNA17; EPSTS; FTNS; MGC104539; MHA; NMHC-II-A; NMMHCA
External IDs OMIM160775 MGI107717 HomoloGene68257 GeneCards: MYH9 Gene
RNA expression pattern
PBB GE MYH9 211926 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4627 17886
Ensembl ENSG00000100345 ENSMUSG00000022443
UniProt P35579 O89055
RefSeq (mRNA) NM_002473 NM_022410.2
RefSeq (protein) NP_002464 NP_071855.2
Location (UCSC) Chr 22:
36.68 – 36.78 Mb
Chr 15:
77.59 – 77.67 Mb
PubMed search [1] [2]

Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.[1][2]

Contents

Clinical significance

MYH9 polymorphisms have been shown to associate with glomerulosclerosis[3] and non-diabetic end stage renal disease[4] in African Americans and in Hispanic Americans,[5] though it was later shown that two independent variants in the nearby APOL1 gene were responsible for the increased risk of disease.[6][7]

Interactions

MYH9 has been shown to interact with PRKCE.[8]

See also

References

  1. ^ Simons M, Wang M, McBride OW, Kawamoto S, Yamakawa K, Gdula D, Adelstein RS, Weir L (August 1991). "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes". Circulation research 69 (2): 530–9. PMID 1860190. 
  2. ^ Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN (November 2000). "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9". American journal of human genetics 67 (5): 1121–8. doi:10.1016/S0002-9297(07)62942-5. PMC 1288554. PMID 11023810. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288554. 
  3. ^ Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (October 2008). "MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis". Nature genetics 40 (10): 1175–84. doi:10.1038/ng.226. PMC 2827354. PMID 18794856. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2827354. 
  4. ^ Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MW, Parekh RS; Family Investigation of Nephropathy and Diabetes Research Group (October 2008). "MYH9 is associated with nondiabetic end-stage renal disease in African Americans". Nature genetics 40 (10): 1185–92. doi:10.1038/ng.232. PMC 2614692. PMID 18794854. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2614692. 
  5. ^ Behar DM, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, Kopp JB, Winkler CA, Nelson GW, Wasser WG, Skorecki K. (2010). "African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.". Hum Mol Genet. 19 (9): 1816–27. doi:10.1093/hmg/ddq040. PMC 2850615. PMID 20144966. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2850615. 
  6. ^ Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. (July 2010). "Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans". Science 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843. PMID 20647424. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2980843. 
  7. ^ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. (July 2010). "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.". Human Genetics 128 (3): 345–50. doi:10.1007/s00439-010-0861-0. PMC 2921485. PMID 20635188. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2921485. 
  8. ^ England, Karen; Ashford David, Kidd Daniel, Rumsby Martin (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cell. Signal. (England) 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. ISSN 0898-6568. PMID 11897493. 

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.




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