- OMIM ID: 609778
- OMIM diseaseName:
- OMIM diseaseClinical_Synopsis:
- OMIM diseaseText:
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.
Pacholsky et al. (2004) showed that the Xin repeats of XIRP2, like those
of Xin, directly bound and cross-linked skeletal muscle F-actin
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.
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
- 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.