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Gene Review

MYH9  -  myosin, heavy chain 9, non-muscle

Homo sapiens

Synonyms: BDPLT6, Cellular myosin heavy chain, type A, DFNA17, EPSTS, FTNS, ...
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Disease relevance of MYH9


Psychiatry related information on MYH9


High impact information on MYH9

  • Among the identified candidate genes is the gene encoding nonmuscle myosin heavy chain 9 (MYH9; refs 8-10), which is expressed in platelets and upregulated during granulocyte differentiation [1].
  • MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of sensorineural deafness, cataracts and nephritis [1].
  • May-Hegglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characterized by thrombocytopenia, giant platelets and leukocyte inclusions [7].
  • The similarities between these platelet disorders and our recent refinement of the MHA (ref. 6) and FTNS (ref. 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic [1].
  • Six- to 8 1/2-day inbred MHA/SsLak and outbred Syrian golden hamster embryos and 14-day fetal lungs, testes, and portions of small intestine were transplanted into cheek pouches or under kidney capsules of adult recipients [8].

Biological context of MYH9

  • Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor [3].
  • Our findings suggest that, at least for the Asp1424Asn mutation in the MYH9 gene, the phenotypes result from a highly unstable protein [9].
  • The expression of MYH9 in the fetal and mature human kidney was studied, and the 40 coding exons of the gene were screened by single-strand conformation polymorphism in 12 families presenting with the association of MTCP and nephropathy [10].
  • If further investigations confirm this latter result, the in vivo tyrosine phosphorylation of MYH9-ALK protein could involve mechanisms different from those described in the other ALK hybrid proteins [4].
  • Nucleotide sequence of the MYH9-ALK chimeric cDNA revealed that the ALK breakpoint was different from all those previously reported [4].

Anatomical context of MYH9

  • These 'MYH9-related' diseases are inherited as an autosomal dominant trait and are characterized by a variable expressivity of clinical features, including macrothrombocytopenia, deafness, nephrites, cataract, and Döhle-like leukocyte inclusions [11].
  • Expression of MYH9 in the rat cochlea was confirmed using reverse transcriptase-PCR and immunohistochemistry [2].
  • MYH9 was immunolocalized in the organ of Corti, the subcentral region of the spiral ligament, and the Reissner membrane [2].
  • We hypothesize that haploinsufficiency of the MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production [9].
  • We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations [12].

Associations of MYH9 with chemical compounds


Physical interactions of MYH9


Enzymatic interactions of MYH9


Other interactions of MYH9


Analytical, diagnostic and therapeutic context of MYH9


  1. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Seri, M., Cusano, R., Gangarossa, S., Caridi, G., Bordo, D., Lo Nigro, C., Ghiggeri, G.M., Ravazzolo, R., Savino, M., Del Vecchio, M., d'Apolito, M., Iolascon, A., Zelante, L.L., Savoia, A., Balduini, C.L., Noris, P., Magrini, U., Belletti, S., Heath, K.E., Babcock, M., Glucksman, M.J., Aliprandis, E., Bizzaro, N., Desnick, R.J., Martignetti, J.A. Nat. Genet. (2000) [Pubmed]
  2. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Lalwani, A.K., Goldstein, J.A., Kelley, M.J., Luxford, W., Castelein, C.M., Mhatre, A.N. Am. J. Hum. Genet. (2000) [Pubmed]
  3. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Heath, K.E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L.E., Savige, J., Denison, J.C., Gregory, M.C., White, J.G., Barker, D.F., Greinacher, A., Epstein, C.J., Glucksman, M.J., Martignetti, J.A. Am. J. Hum. Genet. (2001) [Pubmed]
  4. Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma. Lamant, L., Gascoyne, R.D., Duplantier, M.M., Armstrong, F., Raghab, A., Chhanabhai, M., Rajcan-Separovic, E., Raghab, J., Delsol, G., Espinos, E. Genes Chromosomes Cancer (2003) [Pubmed]
  5. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Marigo, V., Nigro, A., Pecci, A., Montanaro, D., Di Stazio, M., Balduini, C.L., Savoia, A. Genomics (2004) [Pubmed]
  6. MHA commited to mental health care. Rasmus, M., Roehl, L., Gross, S. WMJ (2004) [Pubmed]
  7. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Kelley, M.J., Jawien, W., Ortel, T.L., Korczak, J.F. Nat. Genet. (2000) [Pubmed]
  8. Development of teratomas from embryos transplanted into outbred and inbred adult hamsters. Damjanov, I. J. Natl. Cancer Inst. (1978) [Pubmed]
  9. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Deutsch, S., Rideau, A., Bochaton-Piallat, M.L., Merla, G., Geinoz, A., Gabbiani, G., Schwede, T., Matthes, T., Antonarakis, S.E., Beris, P. Blood (2003) [Pubmed]
  10. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. Arrondel, C., Vodovar, N., Knebelmann, B., Grünfeld, J.P., Gubler, M.C., Antignac, C., Heidet, L. J. Am. Soc. Nephrol. (2002) [Pubmed]
  11. Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. D'Apolito, M., Guarnieri, V., Boncristiano, M., Zelante, L., Savoia, A. Gene (2002) [Pubmed]
  12. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Pecci, A., Noris, P., Invernizzi, R., Savoia, A., Seri, M., Ghiggeri, G.M., Sartore, S., Gangarossa, S., Bizzaro, N., Balduini, C.L. Br. J. Haematol. (2002) [Pubmed]
  13. Signaling via the angiotensin-converting enzyme results in the phosphorylation of the nonmuscle myosin heavy chain IIA. Kohlstedt, K., Kellner, R., Busse, R., Fleming, I. Mol. Pharmacol. (2006) [Pubmed]
  14. The organization of microtubules and microtubule coils in giant platelet disorders. White, J.G., Sauk, J.J. Am. J. Pathol. (1984) [Pubmed]
  15. Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells. Wei, Q., Adelstein, R.S. Mol. Biol. Cell (2000) [Pubmed]
  16. Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain. Obungu, V.H., Lee Burns, A., Agarwal, S.K., Chandrasekharapa, S.C., Adelstein, R.S., Marx, S.J. Oncogene (2003) [Pubmed]
  17. Cleavage of nonmuscle myosin heavy chain-A during apoptosis in human Jurkat T cells. Kato, M., Fukuda, H., Nonaka, T., Imajoh-Ohmi, S. J. Biochem. (2005) [Pubmed]
  18. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Simons, M., Wang, M., McBride, O.W., Kawamoto, S., Yamakawa, K., Gdula, D., Adelstein, R.S., Weir, L. Circ. Res. (1991) [Pubmed]
  19. Cutting edge: association of the motor protein nonmuscle myosin heavy chain-IIA with the C terminus of the chemokine receptor CXCR4 in T lymphocytes. Rey, M., Vicente-Manzanares, M., Viedma, F., Yáñez-Mó, M., Urzainqui, A., Barreiro, O., Vázquez, J., Sánchez-Madrid, F. J. Immunol. (2002) [Pubmed]
  20. Acute myeloid leukemia in a child with hereditary thrombocytopenia. Rheingold, S.R. Pediatric blood & cancer (2007) [Pubmed]
  21. MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Toren, A., Rozenfeld-Granot, G., Heath, K.E., Amariglio, N., Rocca, B., Crosson, J., Epstein, C.J., Laghi, F., Landolfi, R., Carlsson, L.E., Argraves, S., Bizzaro, N., Moxey-Mims, M., Brok-Simoni, F., Martignetti, J.A., Greinacher, A., Rechavi, G. Am. J. Hematol. (2003) [Pubmed]
  22. Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. Mhatre, A.N., Kim, Y., Brodie, H.A., Lalwani, A.K. Otol. Neurotol. (2003) [Pubmed]
  23. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Kunishima, S., Matsushita, T., Kojima, T., Sako, M., Kimura, F., Jo, E.K., Inoue, C., Kamiya, T., Saito, H. Lab. Invest. (2003) [Pubmed]
  24. Identification and characterization of oviductal glycoprotein-binding protein partner on gametes: epitopic similarity to non-muscle myosin IIA, MYH 9. Kadam, K.M., D'Souza, S.J., Bandivdekar, A.H., Natraj, U. Mol. Hum. Reprod. (2006) [Pubmed]
  25. Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families. Yi, Y., Sen Zhang, G., Xu, M., San Ling, Z., Ru Shao, X., Zeng Li, J., Ma, J. Clin. Chim. Acta (2006) [Pubmed]
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