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Gene

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

Summary

Cytogenetic location
6q23.2
Coordinates
Chromosome 6: 131,808,020–131,895,155 (GRCh38)
Exons
25 exons across 87.1 kb
Protein
925 amino acids
Inheritance
Autosomal recessive
Also known as
PC-1, PCA1
Previous symbols
NPPS, M6S1, PDNP1
MANE Select transcript
ENST00000647893.1NM_006208.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Arterial Calcification

    • Generalised Arterial Calcification of InfancyAutosomal recessive

      Severe calcification and narrowing of large and medium arteries starting before or soon after birth, caused by changes in ENPP1 or ABCC6.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports early specialist care and informs carrier and reproductive counselling.

  • Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)

    • Hereditary hypophosphatemic rickets (including X-linked hypophosphatemia)

      Inherited disorders of phosphate handling, most often caused by PHEX variants (X-linked hypophosphatemia) and less often by FGF23, DMP1, ENPP1 or SLC34A3, that lead to low blood phosphate and rickets.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Treatment with oral phosphate and active vitamin D, or with the anti-FGF23 antibody burosumab, can improve bone health and growth.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ENPP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where ENPP1 sits. ENPP1 and 7 genes near it on chromosome 6, from 131,351,588 to 132,351,587.Chromosome 66q23.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27131.4 Mb131.6 Mb131.8 Mb132 Mb132.2 MbARG1: 131,470,832–131,584,332, forward strandARG1MED23: 131,572,244–131,628,313, reverse strandMED23ENPP3: 131,628,292–131,749,043, forward strandENPP3OR2A4: 131,699,644–131,701,401, reverse strandOR2A4CTAGE9: 131,708,441–131,711,017, reverse strandCTAGE9ENPP1: 131,808,020–131,895,155, forward strandENPP1CCN2: 131,948,176–131,951,456, reverse strandCCN2MOXD1: 132,295,882–132,401,556, reverse strandMOXD1Diagram of ENPP1: 25 exons on the forward strand of chromosome 6Exon 1: 7 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 25: 5 known disease-causing sitesExon 1: 131,808,020–131,808,275, 256 basesExon 2: 131,847,776–131,847,848, 73 basesExon 3: 131,849,990–131,850,106, 117 basesExon 4: 131,851,142–131,851,267, 126 basesExon 5: 131,852,175–131,852,235, 61 basesExon 6: 131,854,926–131,855,023, 98 basesExon 7: 131,858,668–131,858,747, 80 basesExon 8: 131,860,387–131,860,506, 120 basesExon 9: 131,861,595–131,861,704, 110 basesExon 10: 131,864,506–131,864,571, 66 basesExon 11: 131,864,866–131,864,938, 73 basesExon 12: 131,868,018–131,868,126, 109 basesExon 13: 131,869,358–131,869,489, 132 basesExon 14: 131,872,070–131,872,101, 32 basesExon 15: 131,872,923–131,873,050, 128 basesExon 16: 131,874,268–131,874,337, 70 basesExon 17: 131,875,776–131,875,863, 88 basesExon 18: 131,876,992–131,877,161, 170 basesExon 19: 131,878,542–131,878,593, 52 basesExon 20: 131,879,880–131,880,034, 155 basesExon 21: 131,882,345–131,882,474, 130 basesExon 22: 131,883,694–131,883,774, 81 basesExon 23: 131,884,931–131,885,063, 133 basesExon 24: 131,886,562–131,886,724, 163 basesExon 25: 131,890,341–131,895,155, 4,815 bases124681012141618202224255′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7.4 kb of the gene's 87.1 kb; 2,778 of those bases code for the protein.

How a genome test reads ENPP1

56

positions in ENPP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 87.1 kb of ENPP1, introns included, not only the 7.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ENPP1 gene: ectonucleotide pyrophosphatase/phosphodiesterase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/enpp1

Vancouver

Dante Labs. ENPP1 gene: ectonucleotide pyrophosphatase/phosphodiesterase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/enpp1

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