OFD1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
OFD1
Identifiers
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
RNA expression pattern
PBB GE OFD1 203569 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003611
NM_001330209
NM_001330210

NM_177429

RefSeq (protein)

NP_001317138
NP_001317139
NP_003602

NP_803178.2
NP_803178

Location (UCSC) Chr X: 13.73 – 13.77 Mb Chr X: 166.39 – 166.44 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.[3][4][5]

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][5]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: OFD1 oral-facial-digital syndrome 1". 

External links[edit]

Further reading[edit]