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CDAN1
codanin 1
The CDAN1 gene codes for codanin-1, a protein that is crucial for maintaining the nucleus's structure within cells and is implicated in the development of red blood cells. CDAN1 provides instructions for producing the codanin-1 protein.
CDAN1 is located on the long (q) arm of chromosome 15, at band 15q15.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The CDAN1 gene is responsible for producing a protein known as codanin-1. This protein is believed to be essential for maintaining the structural integrity of the cell's nucleus, where the majority of the cell's DNA is stored. Codanin-1 also appears to be involved in the intricate process of red blood cell development and differentiation, although its precise role in this function is still being investigated. Pathogenic changes within the CDAN1 gene are associated with a specific type of inherited blood disorder.
What the gene does
The codanin-1 protein, encoded by the CDAN1 gene, is thought to be involved in the architecture of the cell nucleus. Research indicates that codanin-1 contributes to the assembly of nucleosomes, which are fundamental units that help to compactly package DNA. This tight packaging is important for regulating gene expression. By influencing gene activity, codanin-1 participates in various developmental processes, including cell growth throughout the cell cycle. Furthermore, codanin-1 is implicated in erythropoiesis, the process by which red blood cells differentiate and develop, though its specific mechanism in this pathway is not yet fully understood.
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Chromosome location
The CDAN1 gene is situated on chromosome 15, specifically at position 15q15.2. This location refers to the long (q) arm of chromosome 15, within region 15, band 2. The gene spans a particular segment of the human genome.
Protein structure
The codanin-1 protein is composed of 1227 amino acids. It features a disordered region spanning amino acids 63-294. Additionally, a specific interaction region, crucial for its engagement with ASF1A/B proteins, is located between amino acids 188-208.
Key variants
Genetic variations, often referred to as variants or mutations, within the CDAN1 gene can alter the function of the codanin-1 protein. These changes may disrupt the protein's ability to maintain nuclear structure or properly support red blood cell development, leading to clinical consequences.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.2015C>T | p.Pro672Leu | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.156C>G | p.Phe52Leu | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.1596dup | p.Met533fs | Pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.1791_1792delinsTCTTGCCCTGGCTTGAAGA | p.Glu597_Leu598delinsAspLeuAlaLeuAlaTer | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.2044C>T | p.Arg682Ter | Pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.2140C>T | p.Arg714Trp | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.2852_2853del | p.Glu951fs | Pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.3024_3025insTT | p.Glu1009fs | Pathogenic | ★★☆☆ | not provided |
c.3124C>T | p.Arg1042Trp | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
c.3389C>T | p.Pro1130Leu | Pathogenic/Likely pathogenic | ★★☆☆ | Anemia, congenital dyserythropoietic, type 1a |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the CDAN1 gene are associated with congenital dyserythropoietic anaemia type I. This condition is characterised by a shortage of red blood cells due to abnormal formation, where immature red blood cells fail to develop into functional mature cells, impairing oxygen transport.
No disease links recorded for this gene in our reference set.
UK clinical status
The CDAN1 gene is reviewed by NHS clinical panels in the UK, indicating its relevance in diagnostic testing. It is listed as 'green' on PanelApp for conditions such as Cytopenias and congenital anaemias, Foetal anomalies (R21), Foetal hydrops, and Rare anaemia (R92). A 'green' status indicates that there is sufficient evidence for the gene to be included in diagnostic testing for these conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the CDAN1 gene?
The CDAN1 gene provides instructions for the codanin-1 protein, which is believed to be important for maintaining the structure of the cell's nucleus and is involved in the formation and maturation of red blood cells.
What health condition is linked to CDAN1 variants?
Variants in the CDAN1 gene are associated with congenital dyserythropoietic anaemia type I, a blood disorder characterised by the improper development of red blood cells, leading to a shortage of mature, functional red blood cells.
Is the CDAN1 gene part of NHS genetic testing panels?
Yes, the CDAN1 gene is listed as 'green' on several NHS PanelApp panels, including those for Cytopenias and congenital anaemias, Foetal anomalies, Foetal hydrops, and Rare anaemia, indicating its use in diagnostic testing for these conditions.
References
- Renella R, Wood WG. The congenital dyserythropoietic anemias. Hematology/oncology clinics of North America. 2009. PMID: 19327584
- Noy-Lotan S, Dgany O, Lahmi R. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. Haematologica. 2009. PMID: 19336738
- Ahmed MR, Chehal A, Zahed L. Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. Blood. 2006. PMID: 16754775
- Tamary H, Dgany O, Proust A. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. British journal of haematology. 2005. PMID: 16098079
- Dgany O, Avidan N, Delaunay J. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. American journal of human genetics. 2002. PMID: 12434312
- Adam MP, Bick S, Mirzaa GM. Congenital Dyserythropoietic Anemia Type I. 1993. PMID: 20301759