功能： disease:Defects in PROKR2 are the cause of Kallmann syndrome type 3 (KAL3) [MIM:244200]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. KAL3 patients have variable degrees of olfactory and reproductive dysfunction, but do not show any of the occasional clinical anomalies reported in Kallmann syndrome such as renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis.,function:Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.,similarity:Belongs to the G-protein coupled receptor 1 family.,tissue specificity:Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.,
功能： disease:Defects in PROKR2 are the cause of Kallmann syndrome type 3 (KAL3) [MIM:244200]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. KAL3 patients have variable degrees of olfactory and reproductive dysfunction, but do not show any of the occasional clinical anomalies reported in Kallmann syndrome such as renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis.,function:Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.,similarity:Belongs to the G-protein coupled receptor 1 family.,tissue specificity:Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.,
在线咨询
湘公网安备