{"symbol":"OFD1","synonyms":["71-7A","JBTS10","RP23","CXORF5","SGBS2"],"name":"oral-facial-digital syndrome 1","description":"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]","ncbiEntrezGeneId":8481,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8481","proteins":[{"symbol":"OFD1_HUMAN","href":"/api/1.0/protein/OFD1_HUMAN"}],"hgncRootFamilies":[]}