OFD1

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External IDsGeneCards: [1]
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SpeciesHumanMouse
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RefSeq (protein)

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Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.[1][2][3]

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][3]

See also

References

  1. de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S (Nov 1998). "Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains". Genomics. 51 (2): 243–50. doi:10.1006/geno.1998.5348. PMID 9722947.
  2. Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM (Aug 1997). "The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3". Hum Mol Genet. 6 (7): 1163–7. doi:10.1093/hmg/6.7.1163. PMID 9215688.
  3. 3.0 3.1 "Entrez Gene: OFD1 oral-facial-digital syndrome 1".

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Further reading




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