Dystrophia myotonica WD repeat-containing protein (DMWD)

Dystrophia myotonica WD repeat-containing protein (DMWD) is a WD repeat protein encoded by the DMWD gene on human chromosome 19[11][13][14]. It functions as a regulator and cofactor in the deubiquitinating USP12/DMWD/WDR48 complex, promoting USP12 enzymatic activity[8][9][6][13]. WD repeat proteins generally act as scaffolds for multiprotein complexes, and DMWD is predominantly localized to the cytoplasm and nucleus[9][13]. The gene is located near the DMPK gene, and expanded CTG repeats in DMPK (which cause myotonic dystrophy type 1) can lead to partial silencing of neighboring genes, such as DMWD, through chromatin structural alterations[3][5][12]. DMWD is expressed developmentally and is notably abundant in synapse-dense brain regions[5]. There are currently no known approved drugs that specifically interact with DMWD, and it is not considered a direct therapeutic target at this time[9][13][11].

Other names

DMWDDM1 locus, WD repeat containingDM9DMR-N9gene59D19S593Edystrophia myotonica-containing WD repeat motif proteinprotein 59protein DMR-N9DMRN9