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SEM1 pseudogene 1 (SEM1P1), also referred to as DSS1P1 or "deleted in split hand/split foot 1 pseudogene," is a pseudogene related to the DSS1/SEM1 gene family. Pseudogenes are DNA sequences similar to functional genes but are generally nonfunctional due to mutations or disruptions that prevent expression of a functional protein. The term "pseudogene" indicates this element is not transcribed into a functional protein and, accordingly, does not serve as a receptor, enzyme, transporter, or transcription factor. It is not considered a direct therapeutic or diagnostic target. The nomenclature relates it to the SHFM1 locus, a region implicated in split hand/foot malformation, but only protein-coding genes in this region (such as SHFM1/DSS1) have established biological or disease relevance[4][6][3]. SEM1P1 itself is not known to participate in biological pathways, disease processes, or drug interactions.
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