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CANT1
calcium activated nucleotidase 1
The *CANT1* gene provides instructions for making an enzyme involved in calcium-activated nucleotidase activity, which is important for various cellular processes. The *CANT1* gene encodes the calcium activated nucleotidase 1 enzyme.
CANT1 is located on the long (q) arm of chromosome 17, at band 17q25.3. Arm ratio per GRCh38 - banding schematic.
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Clinical tests that include this
Overview
The *CANT1* gene, short for calcium activated nucleotidase 1, instructs the body to produce an enzyme involved in hydrolysing nucleotides. This enzymatic activity is central to cellular processes that utilise or recycle these fundamental building blocks of DNA and RNA. Understanding *CANT1* is important as its proper function is crucial for various biological pathways, particularly those related to bone and cartilage development.
What the gene does
The *CANT1* gene produces an enzyme named calcium-activated nucleotidase 1. This enzyme's primary role is to catalyse the breakdown of specific nucleotides, such as uridine diphosphate (UDP) and guanosine diphosphate (GDP). The nucleotidase activity is reliant on the presence of calcium ions, meaning its function can be regulated by intracellular calcium levels. By modulating the availability of these nucleotides, CANT1 influences a range of cellular activities, including signal transduction, glycosylation, and metabolic pathways. Its involvement in the metabolism of nucleotide sugars is particularly relevant for the synthesis of proteoglycans, which are essential components of cartilage and bone, suggesting a critical role in skeletal formation.
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Chromosome location
The *CANT1* gene is located on chromosome 17. Specifically, its chromosomal address is 17q25.3. This position indicates the gene resides on the long arm ('q') of chromosome 17, within region 25, band 3.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Variants in the *CANT1* gene can alter the function or production of the calcium activated nucleotidase 1 enzyme. These genetic changes can range from small alterations in DNA building blocks to larger deletions or duplications. The precise impact of a *CANT1* variant depends on its specific nature and location within the gene.
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.188del | p.Arg63fs | Pathogenic/Likely pathogenic | ★★☆☆ | Desbuquois dysplasia 1 |
c.258G>A | p.Trp86Ter | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.277_278del | p.Leu93fs | Pathogenic | ★★☆☆ | Inborn genetic diseases |
c.278del | p.Leu93fs | Pathogenic | ★★☆☆ | not provided |
c.347_348del | p.Glu116fs | Pathogenic | ★★☆☆ | Desbuquois dysplasia 1 |
c.643G>A | p.Glu215Lys | Pathogenic/Likely pathogenic | ★★☆☆ | Desbuquois dysplasia 1 |
c.643G>T | p.Glu215Ter | Pathogenic | ★★☆☆ | Fetal anomalies with a likely genetic cause |
c.676G>A | p.Val226Met | Pathogenic | ★★☆☆ | Desbuquois dysplasia 1 |
c.71dup | p.Leu25fs | Pathogenic/Likely pathogenic | ★★☆☆ | Epiphyseal dysplasia, multiple, 7 |
c.734C>T | p.Pro245Leu | Pathogenic/Likely pathogenic | ★★☆☆ | Desbuquois dysplasia 1 |
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 *CANT1* gene are implicated in conditions primarily affecting skeletal development and connective tissues. The inheritance pattern associated with these conditions can vary, indicating different ways the gene variants may be passed down through families and manifest clinically. These conditions often involve structural abnormalities observed during prenatal development or in infancy.
No disease links recorded for this gene in our reference set.
UK clinical status
The *CANT1* gene is recognised within the NHS Genomic Medicine Service due to its association with specific conditions. It is listed on several NHS Genomic Test Directory panels, including the DDG2P panel, the Foetal anomalies panel (R21), the Foetal hydrops panel, and the Skeletal dysplasia panel (R104). This inclusion highlights its clinical relevance for genetic testing in the UK.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the CANT1 gene?
The *CANT1* gene produces an enzyme called calcium activated nucleotidase 1, which breaks down specific nucleotides. This activity is crucial for nucleotide metabolism and is particularly important for normal skeletal and cartilage development.
Where is the CANT1 gene located in the human genome?
The *CANT1* gene is found on chromosome 17, specifically at location 17q25.3. This indicates its position on the long arm of the chromosome.
Are there clinical tests for CANT1 variants in the UK?
Yes, the *CANT1* gene is included on several NHS Genomic Test Directory panels, such as those for Foetal anomalies and Skeletal dysplasia, suggesting its relevance for genetic testing in the UK.