2024年12月25日 · PRKCD (Protein Kinase C Delta) is a Protein Coding gene. Diseases associated with PRKCD include Autoimmune Lymphoproliferative Syndrome, Type Iii and Autosomal Systemic Lupus Erythematosus. Among its related pathways are Prolactin Signaling and Calmodulin induced events.

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by the second messenger diacylglycerol. [6] . PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways.

Ubiquitous expression in adrenal (RPKM 23.1), bone marrow (RPKM 21.7) and 25 other tissues. 由该基因编码的蛋白质是丝氨酸和苏氨酸特异性蛋白激酶的蛋白激酶 C 家族的成员。 编码的蛋白质被甘油二酯激活，既是肿瘤抑制因子又是细胞周期进程的正调节因子。 此外，这种蛋白质可以正向或负向调节细胞凋亡。 该基因的缺陷是自身免疫性淋巴增生综合征的一个原因。 [RefSeq 提供，2017 年 8 月]

2021年10月26日 · The PRKDC gene encodes the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) protein. DNA-PKcs plays an important role in nonhomologous end joining (NHEJ) of DNA double-strand breaks (DSBs) and is also closely related to the establishment of central immune tolerance and the maintenance of chromosome stability.

Ubiquitous expression in colon adult (RPKM 37.2), adrenal adult (RPKM 35.9) and 25 other tissues. 该基因编码的蛋白可启动胰岛素受体底物结合活性和蛋白激酶 C 活性。 参与多个过程，包括细胞成分组织的负调节；胰岛素受体信号通路的负调控；和血小板聚集的负调节。 作用于 B 细胞增殖的上游或内部；免疫球蛋白介导的免疫反应；和凋亡信号通路的正调控。 位于多个细胞成分中，包括细胞-细胞连接；细胞质；和核基质。 以多种结构表达，包括消化系统；中枢神经系 …

Homozygous PRKCD mutation results in B-cell hyperproliferation and defective apoptosis with consequent lymphocyte accumulation and autoantibody production in humans, and disrupts natural killer cell function. Human PRKCD deficiency is a novel cause of common variable immunodeficiency-like B-cell deficiency with severe autoimmunity.

2016年8月19日 · Recently, patients with autosomal recessive mutations in PRKCD encoding protein kinase c delta (PKCδ) have been identified, representing a monogenic prototype for one of the most prominent forms of humoral systemic autoimmune diseases, systemic lupus erythematosus (SLE).

2023年10月5日 · Protein kinase C delta (PKCδ) deficiency is a rare genetic disorder characterised by features of autoimmunity, lymphoproliferation and susceptibility to infection. A number of kindreds have been described globally with a variety of point mutations leading to significant variation in clinical presentation.

2021年11月8日 · The PRKCD gene encodes a member of the protein kinase C family, members of which are critical for regulation of cell survival, proliferation, and apoptosis. In B lymphocytes, PRKCD is involved in B-cell receptor-mediated signaling (summary by Salzer et al., 2013 ).

2024年12月10日 · Clinical resource with information about PRKCD, Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease., Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4., and ...