Full name: dystrophia myotonica-protein kinase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DM; DMK; Dm15; MDPK; MT-PK

Summary: The protein encoded by this gene is a serine/threonine protein kinase that contains coiled-coil and C-terminal membrane association domains. In the embryonic mouse, it is found in cardiac and skeletal myocytes where it appears to play a role in myogenesis. In adults, the transcript is localized to several tissues including brain, heart, and skeletal and smooth muscle, and a function in cytoskeletal remodeling has been described. Transcripts with expanded CUG repeats in the 3' untranslated region mediate alternative splicing of several genes and sequester RNA binding proteins and RNA transcripts that contain CAG repeats, resulting in myotonic dystrophy, an autosomal dominant neuromuscular disorder. Alternative splicing results in multiple protein coding and non-coding transcript variants. [provided by RefSeq, Oct 2014]

Expression: Broad expression in heart adult (RPKM 189.9), bladder adult (RPKM 179.2) and 16 other tissues

Gene size: 10176bp

Exon count: 15