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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.
71-7A; CXorf5; DXGgc7e; JBTS10; Ofd1; OFD1 centriole and centriolar satellite protein; ofd1 protein; OFD1, centriole and centriolar satellite protein; oral-facial-digital syndrome 1; oral-facial-digital syndrome 1 gene homolog; oral-facial-digital syndrome 1 gene homolog (human); oral-facial-digital syndrome 1 protein; Oral-facial-digital syndrome 1 protein homolog; ORF2; Protein 71-7A; putative oral-facial-digital syndrome 1 protein; RGD1562231; RP23; SGBS2; wu:fa07a10; wu:fd17e11; zgc:92562
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