Instituto de Biociencia, Biotecnología y Biología Traslacional (iB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.
Front Endocrinol (Lausanne). 2023 Feb 8;14:1132787. doi: 10.3389/fendo.2023.1132787. eCollection 2023.
Prokineticin receptor 2 () encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration. Patients carrying mutations in typically present hypogonadotropic hypogonadism, anosmia/hyposmia or Kallmann Syndrome. More recently variants in have been linked to several other endocrine disorders. In particular, several patients with pituitary disorders have been reported, ranging from mild phenotypes, such as isolated growth hormone deficiency, to more severe ones, such as septo-optic dysplasia. Here we summarize the changing landscape of -related disease, the variants reported to date, and discuss their origin, classification and functional assessment.
胃动素受体 2 () 编码一种 G 蛋白偶联受体，可与 PROK1 和 PROK2 结合。研究表明，缺乏 的小鼠表现出嗅球形成异常以及 GnRH 神经元迁移缺陷。携带 基因突变的患者通常表现为促性腺激素低下性性腺功能减退症、嗅觉缺失/减退或 Kallmann 综合征。最近， 中的变异与其他几种内分泌疾病有关。特别是，已经报道了一些患有垂体疾病的患者，从轻度表型，如孤立性生长激素缺乏症，到更严重的表型，如隔-视神经发育不良。在这里，我们总结了 -相关疾病的变化情况、迄今为止报道的变异体，并讨论了它们的起源、分类和功能评估。
