Aliases for OFD1 Gene
External Ids for OFD1 Gene
Previous HGNC Symbols for OFD1 Gene
Previous GeneCards Identifiers for OFD1 Gene
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
GeneCards Summary for OFD1 Gene
OFD1 (OFD1 Centriole And Centriolar Satellite Protein) is a Protein Coding gene. Diseases associated with OFD1 include Orofaciodigital Syndrome I and Retinitis Pigmentosa 23. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include alpha-tubulin binding and gamma-tubulin binding.
UniProtKB/Swiss-Prot Summary for OFD1 Gene
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).