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TARDBP pseudogene 1 (TARDBPP1, also known as bA318P23.1) is a genomic sequence that closely resembles the functional TARDBP gene but does not encode a functional protein[6][1]. The functional gene, TARDBP, encodes TDP-43, an RNA- and DNA-binding protein involved in transcriptional repression, mRNA stability, and splicing regulation, and is implicated in neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration[1][2][3][6]. However, the pseudogene variant (TARDBPP1) does not express an active protein, and pseudogenes like this are typically classified as non-coding elements without known direct biological or disease roles[1][6]. No therapeutic drugs, mechanisms of action, or biomarkers are associated with this pseudogene.
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