Guanylyl cyclase-activating protein 1
Definition:
References:
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[1]. Li Jiang, et al. A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy. Vision Res. 2008 Oct;48(23-24):2425-32. [Content Brief]
[2]. Veronique B D Kitiratschky, et al. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009 Aug;30(8):E782-96. [Content Brief]
[3]. Igor V Peshenko, et al. A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration. J Biol Chem. 2019 Mar 8;294(10):3476-3488. [Content Brief]
[4]. Valerio Marino, et al. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. [Content Brief]
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