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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for OFD1 Gene
OFD1 (Oral-Facial-Digital Syndrome 1) is a Protein Coding gene. Diseases associated with OFD1 include simpson-golabi-behmel syndrome, type 2 and orofaciodigital syndrome i. Among its related pathways are Signaling by GPCR and Cell Cycle, Mitotic. GO annotations related to this gene include alpha-tubulin binding and gamma-tubulin binding.
UniProtKB/Swiss-Prot 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).