OFD1

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]

此基因定位于X染色体上，编码中心体蛋白。通过构建敲除小鼠模型，研究者们探讨了该基因突变的影响。小鼠基因同样位于X染色体上，然而，与人类基因不同，它不受X染色体失活的影响。该基因的突变与口腔-面部-指（趾）综合征I型及辛普森-高拉比-贝赫尔综合征II型相关。已鉴定出众多假基因；其中，单个假基因位于第5染色体上，而多达十五个假基因则位于Y染色体上。[据RefSeq提供，2016年8月]