2024年12月25日 · IL12RB1 (Interleukin 12 Receptor Subunit Beta 1) is a Protein Coding gene. Diseases associated with IL12RB1 include Immunodeficiency 30 and Immunodeficiency 27A. Among its related pathways are Akt Signaling and Interleukin-12 family signaling.

IL-12Rβ1 is also known as CD212 (cluster of differentiation 212). The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukin-12 (IL-12) with a low affinity, and is part of the IL-12 receptor complex.

2021年12月14日 · Human IL12RB1 encodes IL12Rβ1, a type I transmembrane receptor that is an essential component of the IL12- and IL23-signaling complex. IL12RB1 is well-established as being a promoter of delayed type hypersensitivity (DTH), the immunological reaction ...

白细胞介素-12 (IL-12)是由两个独立基因IL-12A (p35)和IL-12B (p40)编码的一种多效能细胞因子，它们以一种活性异源二聚体(p70)或p40的同型二聚体(p80)形式存在，主要由抗原刺激的树突状细胞、巨噬细胞和中性粒细胞产生，其受体由IL12RB1和IL12RB2组成。

Tissue expression of IL12RB1 is allele-biased and produces an hnRNP H bound pre-mRNA, the processing of which generates a novel IL12 response regulator. Mutations in IL12RB1 that result in lack of expression on cell membrane are associated with susceptibility to mycobacterial infection in three Iranian children.

这种蛋白质以低亲和力与白细胞介素 12 (IL12) 结合，被认为是 IL12 受体复合物的一部分。 该蛋白质形成二硫键连接的寡聚体，这是其 IL12 结合活性所必需的。 该蛋白和 IL12RB2 蛋白的共表达显示导致高亲和力 IL12 结合位点的形成和 IL12 依赖性信号传导的重建。 该基因的突变会损害产生白细胞介素 17 的 T 淋巴细胞的发育，并导致对分枝杆菌和沙门氏菌感染的易感性增加。 可变剪接导致多个转录本变体。 [RefSeq 提供，2014 年 2 月]

2024年11月27日 · Clinical resource with information about IL12RB1, Genome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patients., Mendelian susceptibility to mycobacterial diseases due to …

Interleukin-12 receptor subunit beta-1 is a protein in humans that is encoded by IL12RB1 gene. Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12.

IL12RB1 is a receptor chain that combines with IL12RB2 (601642) to form the receptor for IL12 (see IL12A, 161560). Alternatively, IL12RB1 can combine with IL23R (607562) to form the receptor for IL23 (see IL23A, 605580) (review by van de Vosse et al., 2013).

2018年3月30日 · Human IL12RB1 is an autosomal gene that is essential for mycobacterial disease resistance and T cell differentiation. Using primary human tissue and PBMCs, we demonstrate that lung and T cell...