OFD1 pseudogene 6, Y-linked (OFD1P6Y)

OFD1 pseudogene 6, Y-linked (OFD1P6Y) is a gene-like sequence found on the human Y chromosome within a cluster of multiple OFD1-related pseudogenes[3]. The canonical OFD1 gene encodes a centrosomal protein involved in ciliary function and is associated with disorders like oral-facial-digital syndrome I, Simpson-Golabi-Behmel syndrome type 2, and Joubert syndrome[1][2][3]. However, OFD1P6Y itself is annotated as a pseudogene, meaning it does not encode a functional protein nor exhibits transcriptional or translational activity in humans[3]. While some studies in non-human mammals (e.g., cattle) have suggested that Y-linked OFD1 sequences may retain partial functionality or tissue-specific expression, in humans the Y-linked pseudogene cluster, including OFD1P6Y, is regarded as non-coding relics of gene duplication and retroposition, lacking established biological or disease relevance[1][3]. There are no known drugs acting on OFD1P6Y, and it is not implicated in any biomedical applications as a target, biomarker, or safety concern. If you require information about the canonical, functional gene (OFD1, e.g., "OFD1 centriolar and centriolar satellite protein") rather than the pseudogene, please specify, as the main OFD1 (X-linked) is a functional protein with well-established roles in development and disease[1][2][3].

Other names

OFD1P2OFD1P6OFD1PY6OFDYP6OFD1 pseudogene 2OFD1 pseudogene, Y-linked 6oral-facial-digital syndrome 1 pseudogeneoral-facial-digital syndrome 1, pseudogene 2OFD1P6Y