Bio Background |
The protein encoded by this gene contains a PDZ domain anda LIM domain, indicating that it may be involved in cytoskeletalassembly. In support of this, the encoded protein has been shown tobind the spectrin-like repeats of alpha-actinin-2 and to colocalizewith alpha-actinin-2 at the Z lines of skeletal muscle. This geneis found near a region of chromosome 4 that has been implicated infacioscapulohumeral muscular dystrophy, but this gene does notappear to be involved in the disease. Two transcript variantsencoding different isoforms have been found for this gene. |
Bio References |
Hershberger, R.E., et al. Clin Transl Sci 1(1):21-26(2008)Keira, Y., et al. Neurosci. Res. 57(4):513-521(2007)Arola, A.M., et al. Mol. Genet. Metab. 90(4):435-440(2007)Klaavuniemi, T., et al. J. Biol. Chem. 279(25):26402-26410(2004)Bouju, S., et al. Neuromuscul. Disord. 9(1):3-10(1999) |