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Oral-facial-digital syndrome 1
Symbols OFD1 ; 71-7A; CXorf5; JBTS10; RP23; SGBS2
External IDs OMIM300170 MGI1350328 HomoloGene2677 GeneCards: OFD1 Gene
RNA expression pattern
PBB GE OFD1 203569 s at tn.png
More reference expression data
Species Human Mouse
Entrez 8481 237222
Ensembl ENSG00000046651 ENSMUSG00000040586
UniProt O75665 Q80Z25
RefSeq (mRNA) NM_003611 NM_177429
RefSeq (protein) NP_003602 NP_803178
Location (UCSC) Chr X:
13.75 – 13.79 Mb
Chr X:
166.39 – 166.44 Mb
PubMed search [1] [2]

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[edit]


  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. ^ a b "Entrez Gene: OFD1 oral-facial-digital syndrome 1". 

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