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]