Oral-facial-digital syndrome 1 protein (OFD1)

Oral-facial-digital syndrome 1 protein (OFD1) is a centrosomal and centriolar protein localized at the distal ends of centrioles and the basal body of primary cilia, as well as in the nucleus[1][3][5]. This protein is critical for regulating the length of centrioles, forming distal centriolar appendages, and recruiting intraflagellar transport proteins necessary for ciliogenesis[3]. OFD1 dysfunction results in defective primary cilia formation, abnormal signaling (including hedgehog and Wnt), and a spectrum of developmental disorders characterized by malformations of the face, oral cavity, digits, brain, and kidneys[2][4][5]. OFD1 mutations underlie the X-linked dominant developmental disorder known as oral-facial-digital syndrome type I, with broad phenotypic consequences and embryonic lethality in hemizygous males[4]. No small-molecule drugs or therapeutic agents are currently known to target OFD1 directly in clinical or research use.

Other names

Centriole and centriolar satellite protein OFD1CXorf571-7AJBTS10Protein 71-7AOral-facial-digital syndrome 1 proteinJoubert syndrome type 10RP23SGBS2