Mirror-image polydactyly gene 1 protein (MIPOL1)

Mirror-image polydactyly gene 1 protein (MIPOL1) is a coiled-coil domain-containing protein encoded by the MIPOL1 gene in humans, found on chromosome 14q13.3-q21.1[1][7]. Pathogenic variants are associated with mirror-image polydactyly (Laurin-Sandrow syndrome), characterized by duplication of digits. MIPOL1 plays important roles in developmental processes, particularly limb patterning and central nervous system development[1]. It acts as a tumor suppressor in nasopharyngeal carcinoma (NPC), where its downregulation correlates with disease, and restoration of its expression inhibits angiogenesis, invasion, and metastasis by regulating downstream targets such as p21 and p27 and interacting with other tumor suppressors like RhoB[1][3]. Evidence suggests MIPOL1 might also function as a transcriptional repressor[6]. While not currently established as a druggable target (such as a receptor or enzyme), its relevance in developmental disorders and certain cancers highlights its biomedical significance[1][3][7].

Other names

Mirror-image polydactyly 1CCDC193Coiled-coil domain-containing 193Laurin-Sandrow syndrome geneMIPOL1