Gene Detail

Gene Symbol OFD1
Synonyms 71-7A | CXorf5 | JBTS10 | RP23 | SGBS2
Gene Description OFD1, oral-facial-digital syndrome 1, is a cilia type protein that associates with the centrosome and plays a role a sensory role during development (PMID: 27196396). An FGFR2-OFD1 fusion has been observed in thyroid cancer (PMID: 23558953).
Entrez Id 8481
Chromosome X
Map Location Xp22.2
Canonical Transcript NM_003611

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