CEP290

80184

CEP290
CEP290
Identifiants
AliasCEP290
IDs externesOMIM: 610142 MGI: 2384917 HomoloGene: 77213 GeneCards: CEP290
Wikidata
Voir/Editer HumainVoir/Editer Souris

La CEP290 (pour « Centrosomal protein of 290 kDa »), appelée également néphrocystine 6 (NPH6), est une protéine du centrosome et qui intervient dans le développement ciliaire. Son gène est le CEP290 situé sur le chromosome 12 humain.

Rôles

La protéine est retrouvée dans les centrosomes au cours des mitoses et dans le corpuscule basal (en) des cils cellulaires[5]. Elle interagit avec le CCDC13, régulant la formation des cils[6]. Elle contribue à la stabilité du génome[7].

En médecine

Les mutations de son gène sont impliquées dans les ciliopathies, dont le syndrome de Joubert[8], le syndrome de Senior-Løken, le syndrome de Bardet-Biedl, le syndrome de Meckel[9], la néphronophtise[10].

Notes et références

  1. ↑ a b et c GRCh38: Ensembl release 89: ENSG00000198707 - Ensembl, May 2017
  2. ↑ a b et c GRCm38: Ensembl release 89: ENSMUSG00000019971 - Ensembl, May 2017
  3. ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
  4. ↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
  5. ↑ Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT, Focus on molecules: centrosomal protein 290 (CEP290), Exp Eye Res, 2011;92:316–317
  6. ↑ Staples CJ, Myers KN1, Beveridge RD et al. Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability, J Cell Sci, 2014;127(pt 13):2910–2919
  7. ↑ Slaats GG, Saldivar JC, Bacal J et al. DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome, J Clin Invest, 2015;125:3657-3666
  8. ↑ Sayer JA, Otto EA, O'Toole JF et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4, Nat Genet, 2006;38:674–681
  9. ↑ Coppieters F, Lefever S, Leroy BP, De Baere E, CEP290, a gene with many faces: mutation overview and presentation of CEP290base, Hum Mutat, 2010;31:1097–1108
  10. ↑ Halbritter J, Diaz K, Chaki M et al. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing, J Med Genet, 2012;49:756–767
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