Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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The NT5E gene encodes a membrane protein that synthesizes the conversion of extracellular nucleotides to membrane permeable nucleotides, which is important to signal transduction. Mutations cause autosomal recessive calcification of joints and arteries. Moreover it seems to play a role in calciphylaxis.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hereditary arterial and articular multiple calcification syndrome



Rothe H et al. (2017) Ecto-5' -Nucleotidase CD73 (NT5E), vitamin D receptor and FGF23 gene polymorphisms may play a role in the development of calcific uremic arteriolopathy in dialysis patients - Data from the German Calciphylaxis Registry.

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Misumi Y et al. (1990) Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form.

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Boyle JM et al. (1988) Assignment of ecto-5'-nucleotidase to human chromosome 6.

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Adrian K et al. (2000) Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells.

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Sun D et al. (2001) Mediation of tubuloglomerular feedback by adenosine: evidence from mice lacking adenosine 1 receptors.

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Castrop H et al. (2004) Impairment of tubuloglomerular feedback regulation of GFR in ecto-5'-nucleotidase/CD73-deficient mice.

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St Hilaire C et al. (2011) NT5E mutations and arterial calcifications.

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Update: Aug. 14, 2020
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