OFD1

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.[5][6][7]

OFD1
Identifiers
AliasesOFD1, 71-7A, CXorf5, JBTS10, RP23, SGBS2, oral-facial-digital syndrome 1, centriole and centriolar satellite protein, OFD1 centriole and centriolar satellite protein
External IDsOMIM: 300170 MGI: 1350328 HomoloGene: 2677 GeneCards: OFD1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.2Start13,734,745 bp[1]
End13,769,357 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8481

237222

Ensembl

ENSG00000046651

ENSMUSG00000040586

UniProt

O75665

Q80Z25

RefSeq (mRNA)

NM_003611
NM_001330209
NM_001330210

NM_177429

RefSeq (protein)

NP_001317138
NP_001317139
NP_003602

NP_803178

Location (UCSC)Chr X: 13.73 – 13.77 MbChr X: 166.39 – 166.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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][7]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000046651 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040586 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: OFD1 oral-facial-digital syndrome 1".

Further reading



This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.