CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3. [5] . It is ubiquitously expressed in many tissues and cell types. [6] . The gene codes for two proteins, including the …

2024年12月24日 · CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) is a Protein Coding gene. Diseases associated with CDKN2A include Melanoma, Cutaneous Malignant 2 and Melanoma-Pancreatic Cancer Syndrome.

该 ARF 产品作为肿瘤抑制蛋白 p53 的稳定剂发挥作用，因为它可以与 E3 泛素蛋白连接酶 MDM2 相互作用并隔离， MDM2 是一种负责 p53 降解的蛋白质。 尽管存在结构和功能差异， CDK 抑制剂亚型和由该基因编码的 ARF 产物通过 CDK4 和 p53 在细胞周期 G1 进程中的调节作用，在细胞周期 G1 控制中具有共同的功能。 该基因在多种肿瘤中经常发生突变或缺失，并且已知是一种重要的肿瘤抑制基因。 [RefSeq 提供，2012 年 9 月] This gene generates several transcript …

CDKN2A位于9号染色体，编码一个细胞周期素依赖性激酶抑制剂2a，是抑癌基因。 该基因至少有三种不同的剪接变异体被报道，其中两种被认为是CDK4激酶抑制剂。 另外一个变异体有ARF结构域，可以稳定P53蛋白，三种变异体共同作用可以调控G1细胞周期。 与CDKN2A相关的疾病包括 恶性黑色素瘤 、 卵巢癌 、 膀胱癌 、 家族性胰腺癌 、 食道癌 、 肺癌。 CDKN2B也位于9号染色体，编码细胞周期蛋白依赖性激酶抑制剂2B，也是抑癌基因。 CDKN2B可与CDK4或CDK6结 …

1997年1月1日 · CDKN2A encodes a 156 amino acid, 16kD cell-cycle inhibitor protein, which normally blocks abnormal cell growth and proliferation by binding to complexes of cyclin-dependent kinases (CDK) 4 and 6, and cyclin D. This binding inhibits the kinase activity of the enzyme, which arrests the cell cycle in the Gl phase (Fig. 1).

CDKN2A基因也称多重肿瘤抑制基因（multiple tumor suppressor l，MTS1），由于其编码的蛋白质产物相对分子质量为16×10°，因此又称为P16基因。 Serrano等在1993年利用酵母双杂交蛋白相关性筛选法研究与细胞周期依赖性激酶4（cyclin dependent kinase 4,CDK4）作用的蛋白时,发现 …

The CDKN2A gene provides instructions for making several proteins. The most well-studied are the p16 (INK4A) and the p14 (ARF) proteins. Both function as tumor suppressors, which means they keep cells from growing and dividing too rapidly or in an uncontrolled way.

2021年3月25日 · CDKN2A (cyclin dependent kinase inhibitor 2A, OMIM 600160) is a tumor suppressor gene that encodes for two proteins, namely p16 INK4A and p14 ARF, critical for the regulation of cell cycle pathways.

Chromosome 9: 21,967,751-21,995,300 reverse strand. GRCh37:CM000671.1. This gene has 17 transcripts (splice variants), 3 paralogues and is associated with 155 phenotypes. Show transcript table.

2023年7月17日 · While a CDKN2A mutation means you have a somewhat higher risk of developing cancer than the average person, it may not fully explain why your blood relatives have cancer. As we learn more about these mutations, we may learn they increase the risk for other types of cancers.