Girish Mahajan (Editor)

OFD1

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Species
  
Human

Entrez
  
8481

Human
  
Mouse

Ensembl
  
ENSG00000046651

OFD1

Aliases
  
OFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2, oral-facial-digital syndrome 1, centriole and centriolar satellite protein

External IDs
  
MGI: 1350328 HomoloGene: 2677 GeneCards: 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 (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.[supplied by OMIM]

References

OFD1 Wikipedia