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RP23-395H4.4


Official Full Name
OFD1 centriole and centriolar satellite protein
Organism
Homo sapiens
Gene ID
8481
Background
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]
Synonyms
OFD1; RP23; 71-7A; SGBS2; CXorf5; JBTS10

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