CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and …

2019年1月31日 · CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech).

2024年12月24日 · CDK13 (Cyclin Dependent Kinase 13) is a Protein Coding gene. Diseases associated with CDK13 include Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder and Autism Spectrum Disorder. Among its related pathways are Gene expression (Transcription) and Innate Immune System.

2023年3月7日 · Cyclin-dependent kinase 13 (CDK13) has been suggested to phosphorylate RNA polymerase II and is involved in transcriptional activation. However, whether CDK13 catalyzes other protein substrates...

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene. [5] [6] The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control.

RNA surveillance pathways detect and degrade defective transcripts to ensure RNA fidelity. We found that disrupted nuclear RNA surveillance is oncogenic. Cyclin-dependent kinase 13 (CDK13) is mutat...

cdk13蛋白分子量为 165 kda，主要定位于细胞核，并且多集中于存储 rna剪接因子的核斑中。现认为cdk13是核周区 （癌细胞中形成的亚核结构）的组成部分，核周区 的发生与恶性肿瘤的转移能力呈正相关。cdk家族 中，cdk12与cdk13高度同源，二者结构域相似

Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e.g., cranio-cervical anomalies).

CDK13 mutations associated with melanoma caused accumulation of prematurely terminated RNAs (ptRNAs) generated from existing cleavage and polyadenylation sites found in intronic DNA. ptRNAs accumulated posttranscriptionally due to loss of degradation by the nuclear exosome in CDK13 mutant cells.

该基因编码的蛋白质是细胞周期蛋白依赖性丝氨酸/苏氨酸蛋白激酶家族的成员。 该家族的成员以其在细胞周期控制中作为主开关的重要作用而闻名。 这种蛋白质的确切功能尚未确定，但它可能在 mRNA 加工中发挥作用，并可能参与造血调节。 已经描述了选择性剪接的转录变体。 [RefSeq 提供，2009 年 12 月] The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family.