Orphanet: POC1 centriolar protein B
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POC1B - POC1 centriolar protein B

  • Synonym(s) : FLJ14923, TUWD12
  • Previous symbols and names : POC1 centriolar protein homolog B (Chlamydomonas), WD repeat domain 51B, WDR51B
  • Type : gene with protein product
  • Chromosomal location : 12q21.33
  • OMIM: 614784
  • HGNC: 30836
  • UniProtKB: Q8TC44
  • Genatlas: POC1B
  • Ensembl: ENSG00000139323
  • IUPHAR-DB: -
  • Reactome: Q8TC44
  • LOVD: POC1B

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Cone rod dystrophy ORPHA:1872
  : Assessed

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


Additional information

Health care resources for this gene

Specialised Social Services

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