The orofaciodigital syndrome 1 gene (OFD1OMIM 311200) 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]