Gene: RAD21

Alternate names for this Gene: CDLS4|HR21|HRAD21|MCD1|MGS|NXP1|SCC1|hHR21

Gene Summary: The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.11

Description of this Gene: RAD21 cohesin complex component

Type of Gene: protein-coding

Gene: UTP23

Alternate names for this Gene: C8orf53

Gene Summary:

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.11

Description of this Gene: UTP23 small subunit processome component

Type of Gene: protein-coding

rs1563686762 in RAD21;UTP23 gene and Abnormality of the genital system PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Acid reflux PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Blepharoptosis PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Byzanthine arch palate PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and CORNELIA DE LANGE SYNDROME 4 PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

PMID 22633399 2012 RAD21 mutations cause a human cohesinopathy.

rs1563686762 in RAD21;UTP23 gene and Congenital diaphragmatic hernia PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Global developmental delay PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Highly arched eyebrow PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Long eyelashes PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Low-set, posteriorly rotated ears PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs775266057 in RAD21;UTP23 gene and MUNGAN SYNDROME PMID 25575569 2015 Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

rs1563686762 in RAD21;UTP23 gene and Microcephaly (physical finding) PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Micrognathism PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Poor school performance PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Prominent digit pad PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Single transverse palmar crease PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

rs1563686762 in RAD21;UTP23 gene and Synophrys PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.