OFD1 pseudogene 1 Y-linked (OFD1P1Y)

OFD1 pseudogene 1 Y-linked (OFD1P1Y) is a non-functional copy (“pseudogene”) of the OFD1 gene located on the human Y chromosome[3][4]. Pseudogenes are DNA sequences that are similar to known genes but generally lack regulatory elements, coding potential, or transcriptional activity, and do not encode functional proteins[1]. The OFD1 gene family is involved in processes such as cilia formation and skeletal development when functional, but the Y-linked pseudogenes (OFD1P1Y) are generally considered non-functional and do not contribute to disease or serve as therapeutic targets in humans. While some Y-linked OFD1 family pseudogenes have shown transcriptional activity in non-human species (such as cattle), evidence is lacking for functional protein production or biological activity in humans[1][3][4]. There is no evidence for any role in oral-facial-digital syndrome or other diseases attributed specifically to OFD1P1Y; these are caused by functional mutations in the OFD1 gene on the X chromosome[2][5].

Other names

OFD1P1YOFD1P1OFD1PY1OFDYP1OFD1 pseudogene, Y-linked 1oral-facial-digital syndrome 1 pseudogene