ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Gene ID: 5167, updated on 20-Apr-2024Gene type: protein coding
Also known as: M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1
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- Go to complete Gene record for ENPP1
- Go to Variation Viewer for ENPP1 variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| Arterial calcification, generalized, of infancy, 1 | See labs |
| Hypophosphatemic rickets, autosomal recessive, 2 | See labs |
| Hypopigmentation-punctate palmoplantar keratoderma syndrome | See labs |
| Inherited obesity | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Type 2 diabetes mellitus | See labs |
Genomic context
- Location:
- 6q23.2
- Sequence:
- Chromosome: 6; NC_000006.12 (131808020..131895155)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ENPP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ENPP1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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