OFD1, Official Symbol OFD1provided by HGNC Official Full Name OFD1 centriole and centriolar satellite proteinprovided by HGNC Primary source HGNC:HGNC:2567 See related Ensembl:ENSG00000046651 MIM:300170; AllianceGenome:HGNC:2567 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP23; 71-7A; SGBS2; CXorf5; JBTS10 Summary 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] Expression Ubiquitous expression in lymph node (RPKM 12.1), thyroid (RPKM 9.1) and 25 other tissues See more Orthologs mouse all