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FHOD3

FHOD3
Identifiants
AliasFHOD3
IDs externesOMIM: 609691 MGI: 1925847 HomoloGene: 45323 GeneCards: FHOD3
Wikidata
Voir/Editer HumainVoir/Editer Souris

Le FHOD3 (pour « formin homology 2 domain containing 3 ») est une protéine de type formine. Son gène, FHOD3 est situé sur le chromosome 18 humain.

Rôle

Il est exprimé dans le myocarde et permet l'organisation du sarcomère[5] ainsi que le développement cardiaque[6]. L'activité de cette protéine est modulée par une phosphorylation par le ROCK1[7] ou le CK2[8].

En médecine

Une mutation du gène est responsable de 1 à 2 % des cardiomyopathies hypertrophiques[9]. Des variants sont corrélés à la survenue d'une cardiomyopathie dilatée[10].

Notes et références

  1. ↑ a b et c GRCh38: Ensembl release 89: ENSG00000134775 - Ensembl, May 2017
  2. ↑ a b et c GRCm38: Ensembl release 89: ENSMUSG00000034295 - 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. ↑ Taniguchi K, Takeya R, Suetsugu S et al. Mammalian formin fhod3 regulates actin assembly and sarcomere organization in striated muscles, J Biol Chem, 2009;284:29873-29881
  6. ↑ Ushijima T, Fujimoto N, Matsuyama S et al. The actin-organizing formin protein Fhod3 is required for postnatal development and functional maintenance of the adult heart in mice, J Biol Chem, 2018;293:148-162
  7. ↑ Iskratsch T, Reijntjes S, Dwyer J et al. Two distinct phosphorylation events govern the function of muscle FHOD3, Cell Mol Life Sci, 2013;70:893-908
  8. ↑ Iskratsch T, Lange S, Dwyer J, Kho AL, Dos Remedios C, Ehler E, Formin follows function: a muscle-specific isoform of FHOD3 is regulated by CK2 phosphorylation and promotes myofibril maintenance, J Cell Biol, 2010;191:1159-1172
  9. ↑ Ochoa JP, Sabater-Molina M, García-Pinilla JM et al. Formin homology 2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic cardiomyopathy, J Am Coll Cardiol, 2018;72:2457-2467
  10. ↑ Esslinger U, Garnier S, Korniat A et al. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy, PLoS One, 2017;12:e0172995
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