NT5E Chromosome 6
5'-nucleotidase ecto
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What This Gene Does
The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"CD molecules|5'-nucleotidases"
Locus Type
gene with protein product
Location
6q14.3
Ensembl
ENSG00000135318
Associated Conditions (2)
NT5E-related disorder
Hereditary arterial and articular multiple calcification syndrome
Key Variants
RS41271617
Conflicting classifications of pathogenicity
NT5E-related disorder, Hereditary arterial and articular multiple calcification syndrome, NT5E-related disorder
Health Risk
RS1769796270
Likely pathogenic
NT5E-related disorder, NT5E-related disorder
Health Risk
RS774200574
Likely pathogenic
Hereditary arterial and articular multiple calcification syndrome, NT5E-related disorder, Hereditary arterial and articular multiple calcification syndrome
Health Risk
RS373328681
Pathogenic
Hereditary arterial and articular multiple calcification syndrome, Hereditary arterial and articular multiple calcification syndrome
Health Risk
RS387906620
Pathogenic
Hereditary arterial and articular multiple calcification syndrome, Hereditary arterial and articular multiple calcification syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS41271617 | Health Risk | Conflicting classifications of pathogenicity | NT5E-related disorder, Hereditary arterial and articular multiple calcification syndrome, NT5E-related disorder |
| RS1769796270 | Health Risk | Likely pathogenic | NT5E-related disorder, NT5E-related disorder |
| RS774200574 | Health Risk | Likely pathogenic | Hereditary arterial and articular multiple calcification syndrome, NT5E-related disorder, Hereditary arterial and articular multiple calcification syndrome |
| RS373328681 | Health Risk | Pathogenic | Hereditary arterial and articular multiple calcification syndrome, Hereditary arterial and articular multiple calcification syndrome |
| RS387906620 | Health Risk | Pathogenic | Hereditary arterial and articular multiple calcification syndrome, Hereditary arterial and articular multiple calcification syndrome |