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CDK13

CDK13-related disorder

Rare genetic disorder involving heart, facial and neurological features

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very

CDK13-related disorder

CDK13-related_disorder

CDK13

Protein-coding gene in humans

Cyclin dependent kinase 13 is an enzyme that in humans is encoded by the CDK13 gene. The protein encoded by this gene is a member of the cyclin-dependent

CDK13

Learning disability

Range of neurodevelopmental conditions

300 children had such spontaneous mutations: for example, a fault in the CDK13 gene which is associated with learning and communication difficulties in

Learning disability

Learning_disability

List of syndromes

Syndromes

Catel–Manzke syndrome Cauda equina syndrome Caudal regression syndrome CDK13-related disorder Celebrity worship syndrome Central centrifugal cicatricial

List of syndromes

List_of_syndromes

Developmental disorder

Medical condition

spontaneous genetic mutations not found in either parent (such as a fault in the CDK13 gene). They estimated that about one in 300 children are born with spontaneous

Developmental disorder

Developmental_disorder

Cyclin-dependent kinase complex

cycle are affected. For example, in S. pombe, Cdc2 associates with Cdk13 to form the Cdk13-Cdc2 complex. In S. cerevisiae, the association of Cdc28 with cyclins

Cyclin-dependent kinase complex

Cyclin-dependent_kinase_complex

Okamoto syndrome

Rare genetic condition involving urinary, heart, facial and neurological features

new Okamoto syndrome patient, and the symptoms were virtually identical. CDK13-related disorder Kabuki syndrome Okamoto, Nobuhiko (May 2019). "Okamoto

Okamoto syndrome

Okamoto_syndrome

Cyclin K

Protein-coding gene in the species Homo sapiens

shown to interact with multiple CDKs including CDK9 and latest CDK12 and CDK13. Roles include helping to phosphorylate C-terminal domains of subunits of

Cyclin K

Cyclin_K

Wolfram-like syndrome

Medical condition

autosomal dominant congenital cataracts. In rare cases, a mutation in the CDK13 gene is responsible for the disorder; this genetic mutation has only been

Wolfram-like syndrome

Wolfram-like_syndrome

Protein kinase domain

Protein domain

CDC42BPA ; CDC42BPB ; CDC42BPG ; CDC7 ; CDK1 ; CDK10 ; CDK11A ; CDK11B ; CDK12 ; CDK13 ; CDK14 ; CDK15 ; CDK16 ; CDK17 ; CDK18 ; CDK19 ; CDK2 ; CDK20 ; CDK3 ;

Protein kinase domain

Protein_kinase_domain

Cyclin-dependent kinase 7

Protein-coding gene in the species Homo sapiens

bond at C312, which is unique to CDK7 within the CDK family. CDK12 and CDK13 could also be inhibited using THZ1 (but at higher concentrations) because

Cyclin-dependent kinase 7

Cyclin-dependent_kinase_7

List of human protein-coding genes 2

Q9UQ88 2656 CDK11B HGNC:1729; P21127 2657 CDK12 HGNC:24224; Q9NYV4 2658 CDK13 HGNC:1733; Q14004 2659 CDK14 HGNC:8883; O94921 2660 CDK15 HGNC:14434; Q96Q40

List of human protein-coding genes 2

List_of_human_protein-coding_genes_2