Bio Background |
This gene is imprinted, and located in a cluster ofimprinted genes on chromosome 7q12. This gene is transcribed inboth neuronal and multiple embryonic tissues, and it is maternallyexpressed mainly in embryonic skeletal muscle tissues andbiallelically expressed in other embryonic tissues. The proteinencoded by this gene includes a PDZ domain and a sterile alphamotif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternativelyspliced transcript variants encoding different isoforms have beenfound for this gene. |
Bio References |
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Suarez-Gestal, M., et al. Arthritis Res. Ther. 12 (2), R72 (2010) :Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Nakabayashi, K., et al. J. Med. Genet. 41(8):601-608(2004) |