PHACTR1
Le PHACTR1 (pour « Phosphatase and actin regulator 1 » est une protéine dont le gène est situé sur le chromosome 6 humain.
Rôle
Son expression est modulée par la neuropiline 1. Il intervient dans l'angiogenèse[5] et dans la formation de l'athérome[6].
En médecine
Un variant du gène est associé avec une augmentation du risque de survenue d'une dissection spontanée d'une artère coronaire[7], d'une artère carotide[8] ou d'une dysplasie fibromusculaire[9]. Ce variant régule l'expression de l'endothéline-1[10].
Notes et références
- GRCh38: Ensembl release 89: ENSG00000112137 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000054728 - Ensembl, May 2017
- ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
- ↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
- ↑ Allain B, Jarray R, Borriello L et al. Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells, Cell Signal, 2012;24:214-223
- ↑ Reschen ME, Lin D, Chalisey A, Soilleux EJ, O'Callaghan CA, Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1, Atherosclerosis, 2016;250:95-105
- ↑ Adlam D, Olson TM, Combaret N et al. Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection, J Am Coll Cardiol, 2019;73:58-66
- ↑ Debette S, Kamatani Y, Metso TM et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection, Nat Genet, 2015;47:78-83
- ↑ Kiando SR, Tucker NR, Castro-Vega LJ et al. PHACTR1 is a genetic susceptibility locus for fibromuscular dysplasia supporting its complex genetic pattern of inheritance, PLoS Genet, 2016;12:e1006367
- ↑ Gupta RM, Hadaya J, Trehan A et al. A genetic variant associated with five vascular diseases is a distal regulator of endothelin-1 gene expression, Cell, 2017;170:522-533
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