Orphanet: OFD1 centriole and centriolar satellite protein
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OFD1 - OFD1 centriole and centriolar satellite protein

  • Synonym(s) : 71-7A, JBTS10
  • Previous symbols and names : CXorf5, RP23, oral-facial-digital syndrome 1, retinitis pigmentosa 23 (X-linked recessive)
  • Type : gene with protein product
  • Chromosomal location : Xp22.2
  • OMIM: 300170
  • HGNC: 2567
  • UniProtKB: O75665
  • Genatlas: OFD1
  • Ensembl: ENSG00000046651
  • IUPHAR-DB: -
  • Reactome: O75665
  • LOVD: OFD1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

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