Entrez gene ID | | 8481 |
Official gene symbol | | OFD1 |
Full name | | oral-facial-digital syndrome 1 |
Aliases | | ,71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2, |
Gene 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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xp22 |
Gene position | | 13752832 - 13787480 Map Viewer |
Gene orientation | | plus |
Gene size | | 34649 bp |
Gene sequence |
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OMIM ID | | 300170 |