Disease:


  • OMIM ID: 609778 . 609778
  • OMIM diseaseName:
  • OMIM diseaseClinical_Synopsis:
  • OMIM diseaseText: CLONING By searching databases for sequences containing repeats of a 16-amino acid module found in the Xin protein (CMYA1; 609777), Pacholsky et al. (2004) identified CMYA3, which they called XIRP2. The deduced protein contains 28 Xin repeats within a region spanning about 1,000 amino acids. EST database analysis indicated that XIRP2 is expressed in heart, tongue, and skeletal muscle. Huang et al. (2006) cloned mouse Cmya3, which they called myomaxin. The deduced protein contains 3,283 amino acids. Northern blot analysis detected myomaxin expression in heart and skeletal muscle only. Western blot analysis confirmed myomaxin expression in striated muscle. Immunohistochemical analysis showed robust myomaxin expression in a striated pattern in mouse heart, and myomaxin colocalized with alpha-actinin-2 (ACTN2; 102573) at Z discs. GENE FUNCTION Pacholsky et al. (2004) showed that the Xin repeats of XIRP2, like those of Xin, directly bound and cross-linked skeletal muscle F-actin (102610). Huang et al. (2006) found that the expression of myomaxin was nearly eliminated in Mef2a (600660)-null mouse hearts. They identified 3 putative Mef2a-binding sites in the promoter region of myomaxin and showed that 1 of these sites was functional in Mef2a binding and in Mef2a-dependent transcription. Myomaxin expression was upregulated upon differentiation in cultured mouse myoblasts and by hypertrophic stimuli in neonatal rat cardiomyocytes. Myomaxin immunoprecipitated alpha-actinin-2, and the interaction required 2 subdomains within the actin-binding repeat region of myomaxin. MAPPING The International Radiation Hybrid Mapping Consortium mapped the CMYA3 gene to chromosome 2 (TMAP RH65349). Huang et al. (2006) mapped the mouse Cmya3 gene to chromosome 2.
  • OMIM diseaseSee_Also:
  • OMIM diseaseAllelic_Variants:
  • OMIM diseaseCreation_Date: Patricia A. Hartz: 12/12/2005
  • OMIM diseaseEdit_History_Data: wwang: 07/25/2008 terry: 7/23/2008 mgross: 12/12/2005
  • OMIM diseaseContributors: Patricia A. Hartz - updated: 7/23/2008
  • OMIM diseaseReference: 1. Huang, H.-T.; Brand, O. M.; Mathew, M.; Ignatiou, C.; Ewen, E. P.; McCalmon, S. A.; Naya, F. J.: Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein. J. Biol. Chem. 281: 39370-39379, 2006. 2. Pacholsky, D.; Vakeel, P.; Himmel, M.; Lowe, T.; Stradal, T.; Rottner, K.; Furst, D. O.; van der Ven, P. F. M.: Xin repeats define a novel actin-binding motif. J. Cell Sci. 117: 5257-5268, 2004.