OFD1


Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.
Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene. This region harbors several disease loci, including OFD1, CFNS, DFN6, and SEDT. It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.