| Gene Symbol | OFD1 |
| Entrez Gene ID | 8481 |
| Full Name | OFD1, centriole and centriolar satellite protein |
| Synonyms | 71-7A,CXorf5,JBTS10,RP23,SGBS2 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Orofaciodigital syndrome I, 311200 (3); Simpson-Golabi-Behmel syndrome, type 2, 300209 (3); Joubert syndrome 10, 300804 (3); ?Retinitis pigmentosa 23, 300424 (3) |
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