ENPP1 Chromosome 6
Ectonucleotide pyrophosphatase/phosphodiesterase 1
Upload your DNA to see your personal genotypes for variants in ENPP1.
What This Gene Does
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ectonucleotide pyrophosphatase/phosphodiesterase family
Locus Type
gene with protein product
Location
6q23.2
Ensembl
ENSG00000197594
Associated Conditions (28)
Insulin resistance
susceptibility to
Obesity
Arterial calcification
generalized
of infancy
1
Hypophosphatemic rickets
autosomal recessive
2
Diabetes mellitus type 2
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Type 2 diabetes mellitus
ENPP1-related disorder
Inherited obesity
Inborn genetic diseases
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
Familial cancer of breast
+8 more conditions
Key Variants
RS1044498
Conflicting classifications of pathogenicity
Insulin resistance, susceptibility to, Obesity
Health Risk
RS1243920034
Conflicting classifications of pathogenicity
Health Risk
RS137853273
Conflicting classifications of pathogenicity
Arterial calcification, generalized, of infancy
Health Risk
RS138032713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Type 2 diabetes mellitus, Inherited obesity
Health Risk
RS140470927
Conflicting classifications of pathogenicity
Arterial calcification, generalized, of infancy
Health Risk
RS140729669
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 2
Health Risk
RS1416080494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Type 2 diabetes mellitus, Inherited obesity
Health Risk
RS142001296
Conflicting classifications of pathogenicity
Inborn genetic diseases, ENPP1-related disorder, Inborn genetic diseases
Health Risk
RS142835743
Conflicting classifications of pathogenicity
Health Risk
RS144099489
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 2
Health Risk
RS144209970
Conflicting classifications of pathogenicity
Hypopigmentation-punctate palmoplantar keratoderma syndrome, Type 2 diabetes mellitus, Arterial calcification
Health Risk
RS144882196
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, autosomal recessive, 2
Health Risk
All Variants (119)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374270497 | Health Risk | Pathogenic | Arterial calcification, generalized, of infancy |
| RS387906673 | Health Risk | Pathogenic | Arterial calcification, generalized, of infancy |
| RS397518475 | Health Risk | Pathogenic | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome |
| RS397518476 | Health Risk | Pathogenic | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome |
| RS397518477 | Health Risk | Pathogenic | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome |
| RS587776797 | Health Risk | Pathogenic | Hypophosphatemic rickets, autosomal recessive, 2 |
| RS751725130 | Health Risk | Pathogenic | Arterial calcification, generalized, of infancy |
| RS755969803 | Health Risk | Pathogenic | Hypophosphatemic rickets, autosomal recessive, 2 |
| RS756541266 | Health Risk | Pathogenic | Coronary sclerosis, medial, of infancy |
| RS762731863 | Health Risk | Pathogenic | — |
| RS770775549 | Health Risk | Pathogenic | Arterial calcification, generalized, of infancy |
| RS970617965 | Health Risk | Pathogenic | — |
| RS121918025 | Health Risk | Pathogenic/Likely pathogenic | Arterial calcification, generalized, of infancy |
| RS1258544339 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Hypophosphatemic rickets, autosomal recessive |
| RS1401078432 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1782451970 | Health Risk | Pathogenic/Likely pathogenic | Arterial calcification, generalized, of infancy |
| RS373044722 | Health Risk | Pathogenic/Likely pathogenic | Arterial calcification, generalized, of infancy |
| RS754659608 | Health Risk | Pathogenic/Likely pathogenic | ENPP1-related disorder, ENPP1-related disorder |
| RS777367269 | Health Risk | Pathogenic/Likely pathogenic | Arterial calcification, generalized, of infancy |