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Aliases for ENPP1 Gene

Aliases for ENPP1 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 2 3 5
  • Membrane Component Chromosome 6 Surface Marker 1 3 4
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 1 3 4
  • Plasma-Cell Membrane Glycoprotein PC-1 3 4
  • E-NPP 1 3 4
  • PDNP1 3 4
  • M6S1 3 4
  • NPPS 3 4
  • Membrane Component, Chromosome 6, Surface Marker 1 3
  • Plasma-Cell Membrane Glycoprotein 1 3
  • Alkaline Phosphodiesterase 1 3
  • Ly-41 Antigen 3
  • ARHR2 3
  • COLED 3
  • PCA1 3
  • NPP1 3
  • PC-1 3
  • PC1 4

External Ids for ENPP1 Gene

Previous HGNC Symbols for ENPP1 Gene

  • NPPS
  • M6S1
  • PDNP1

Previous GeneCards Identifiers for ENPP1 Gene

  • GC06P131752
  • GC06P131976
  • GC06P132109
  • GC06P132170
  • GC06P129704
  • GC06P132129

Summaries for ENPP1 Gene

Entrez Gene Summary for ENPP1 Gene

  • 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]

GeneCards Summary for ENPP1 Gene

ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with ENPP1 include cole disease and hypophosphatemic rickets, autosomal recessive, 2. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is ENPP3.

UniProtKB/Swiss-Prot for ENPP1 Gene

  • By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5 triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3,5-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.

Gene Wiki entry for ENPP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP1 Gene

Genomics for ENPP1 Gene

Regulatory Elements for ENPP1 Gene

Promoters for ENPP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ENPP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ENPP1 Gene

Chromosome:
6
Start:
131,808,016 bp from pter
End:
131,895,155 bp from pter
Size:
87,140 bases
Orientation:
Plus strand

Genomic View for ENPP1 Gene

Genes around ENPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP1 Gene

Proteins for ENPP1 Gene

  • Protein details for ENPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22413-ENPP1_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    Protein Accession:
    P22413
    Secondary Accessions:
    • Q5T9R6
    • Q9NPZ3
    • Q9P1P6
    • Q9UP61
    • Q9Y6K3

    Protein attributes for ENPP1 Gene

    Size:
    925 amino acids
    Molecular mass:
    104924 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • The secreted form is monomeric (By similarity). Homodimer. Interacts with INSR.
    SequenceCaution:
    • Sequence=AAA63237.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH59375.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA02054.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENPP1 Gene

neXtProt entry for ENPP1 Gene

Proteomics data for ENPP1 Gene at MOPED

Post-translational modifications for ENPP1 Gene

  • A secreted form is produced through cleavage at Lys-103 by intracellular processing.
  • Autophosphorylated as part of the catalytic cycle of phosphodiesterase/pyrophosphatase activity.
  • N-glycosylated.
  • Glycosylation at Asn 179, Asn 285, Asn 341, Asn 477, Asn 585, Asn 643, Asn 700, Asn 731, and Asn 748
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENPP1 (ENPP1)

No data available for DME Specific Peptides for ENPP1 Gene

Domains & Families for ENPP1 Gene

Suggested Antigen Peptide Sequences for ENPP1 Gene

Graphical View of Domain Structure for InterPro Entry

P22413

UniProtKB/Swiss-Prot:

ENPP1_HUMAN :
  • The di-leucine motif is required for basolateral targeting in epithelial cells, and for targeting to matrix vesicles derived from mineralizing cells.
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Domain:
  • The di-leucine motif is required for basolateral targeting in epithelial cells, and for targeting to matrix vesicles derived from mineralizing cells.
  • Contains 2 SMB (somatomedin-B) domains.
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP1: view

No data available for Gene Families for ENPP1 Gene

Function for ENPP1 Gene

Molecular function for ENPP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolytically removes 5-nucleotides successively from the 3-hydroxy termini of 3-hydroxy-terminated oligonucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
A dinucleotide + H(2)O = 2 mononucleotides.
UniProtKB/Swiss-Prot EnzymeRegulation:
At low concentrations of ATP, a phosphorylated intermediate is formed which inhibits further hydrolysis.
UniProtKB/Swiss-Prot Function:
By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5 triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3,5-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.

Gene Ontology (GO) - Molecular Function for ENPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005044 scavenger receptor activity IEA --
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 11289049
GO:0016787 hydrolase activity IEA --
GO:0030247 polysaccharide binding IEA --
genes like me logo Genes that share ontologies with ENPP1: view
genes like me logo Genes that share phenotypes with ENPP1: view

Human Phenotype Ontology for ENPP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENPP1 Gene

MGI Knock Outs for ENPP1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ENPP1 Gene

Localization for ENPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP1 Gene

Cell membrane; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Secreted. Note=The proteolytically processed form is secreted (By similarity). Targeted to the basolateral membrane in polarized epithelial cells and in hepatocytes, and to matrix vesicles in osteoblasts. In bile duct cells and cancer cells, located to the apical cytoplasmic side. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENPP1 Gene COMPARTMENTS Subcellular localization image for ENPP1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ENPP1 Gene

Pathways & Interactions for ENPP1 Gene

genes like me logo Genes that share pathways with ENPP1: view

Gene Ontology (GO) - Biological Process for ENPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy IDA 12746903
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0008152 metabolic process IEA --
GO:0009143 nucleoside triphosphate catabolic process IDA 10513816
genes like me logo Genes that share ontologies with ENPP1: view

No data available for SIGNOR curated interactions for ENPP1 Gene

Drugs & Compounds for ENPP1 Gene

(23) Drugs for ENPP1 Gene - From: Novoseek, HMDB, FDA Approved Drugs, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amifostine Approved, Investigational Pharma Target, inducer 81
Ribavirin Approved Pharma Target, inhibitor 948
Ethyol Approved December 8, 1995 Pharma 0
FAD Approved Pharma 0
Adenosine monophosphate Approved Nutra 0

(23) Additional Compounds for ENPP1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
beta-nicotinamide D-ribonucleotide
Dephospho-CoA
  • 3'-Dephospho-CoA
  • 3'-Dephospho-Coenzyme A
  • 3'-O-Dephosphono-CoA
  • 3'-O-Dephosphono-Coenzyme A
  • Dephospho-CoA
3633-59-8
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carbamoyl-1-b-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
1094-61-7
genes like me logo Genes that share compounds with ENPP1: view

Transcripts for ENPP1 Gene

Unigene Clusters for ENPP1 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: -

ExUns: 24 ^ 25
SP1:
SP2:

Relevant External Links for ENPP1 Gene

GeneLoc Exon Structure for
ENPP1
ECgene alternative splicing isoforms for
ENPP1

Expression for ENPP1 Gene

mRNA expression in normal human tissues for ENPP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP1 Gene

This gene is overexpressed in Liver (x6.3) and Uterus (x5.2).

Protein differential expression in normal tissues from HIPED for ENPP1 Gene

This gene is overexpressed in Placenta (25.4), Breast (6.3), and Uterus (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ENPP1 Gene



SOURCE GeneReport for Unigene cluster for ENPP1 Gene Hs.527295

mRNA Expression by UniProt/SwissProt for ENPP1 Gene

P22413-ENPP1_HUMAN
Tissue specificity: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis.
genes like me logo Genes that share expression patterns with ENPP1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for ENPP1 Gene

Orthologs for ENPP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENPP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ENPP1 35
  • 88.49 (n)
  • 87.12 (a)
ENPP1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP1 35
  • 88.73 (n)
  • 86.76 (a)
ENPP1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enpp1 35
  • 81.15 (n)
  • 80.78 (a)
Enpp1 16
Enpp1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENPP1 35
  • 99.57 (n)
  • 99.24 (a)
ENPP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp1 35
  • 80.43 (n)
  • 80.25 (a)
oppossum
(Monodelphis domestica)
Mammalia ENPP1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENPP1 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENPP1 35
  • 70.9 (n)
  • 66.93 (a)
ENPP1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENPP1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp1 35
  • 64.53 (n)
  • 60.87 (a)
zebrafish
(Danio rerio)
Actinopterygii enpp1 35
  • 59.85 (n)
  • 56.58 (a)
enpp1 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27A7.1 37
  • 28 (a)
C27A7.3 37
  • 26 (a)
CELE_C27A7.1 35
  • 46.27 (n)
  • 35.38 (a)
C27A7.3 36
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP1 36
  • 21 (a)
ManyToMany
NPP2 36
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29680 35
  • 50.54 (n)
  • 42.7 (a)
rice
(Oryza sativa)
Liliopsida Os01g0196600 35
  • 50.54 (n)
  • 45.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
Species with no ortholog for ENPP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP1 Gene

ENSEMBL:
Gene Tree for ENPP1 (if available)
TreeFam:
Gene Tree for ENPP1 (if available)

Paralogs for ENPP1 Gene

Paralogs for ENPP1 Gene

(8) SIMAP similar genes for ENPP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ENPP1: view

Variants for ENPP1 Gene

Sequence variations from dbSNP and Humsavar for ENPP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1044498 - 131,851,228(+) AGGAC(A/C)AGGGC reference, missense
VAR_014141 Ossification of the posterior longitudinal ligament of the spine (OPLL)
rs17847050 - 131,860,393(+) GATTG(C/T)ATCCA reference, missense
rs190947144 Ossification of the posterior longitudinal ligament of the spine (OPLL) 131,860,451(+) TGCTT(C/T)CTTTT reference, missense
rs1805138 - 131,884,954(+) ATGAC(A/C)CCCTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ENPP1 Gene

Variant ID Type Subtype PubMed ID
nsv7968 CNV Loss 18304495
dgv88n68 CNV Loss 17160897
dgv6993n71 CNV Gain 21882294
nsv5479 CNV Loss 18451855

Variation tolerance for ENPP1 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.57; 86.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENPP1 Gene

HapMap Linkage Disequilibrium report
ENPP1
Human Gene Mutation Database (HGMD)
ENPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP1 Gene

Disorders for ENPP1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for ENPP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cole disease
  • guttate hypopigmentation
hypophosphatemic rickets, autosomal recessive, 2
  • hypophosphatemic rickets, autosomal recessive 2
arterial calcification, generalized, of infancy, 1
  • arterial calcification of infancy
arterial calcification of infancy
  • generalized arterial calcification of infancy
autosomal recessive hypophosphatemic rickets
  • arhr
- elite association - COSMIC cancer census association via MalaCards
Search ENPP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ENPP1_HUMAN
  • Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269 PubMed:12881724, ECO:0000269 PubMed:15605415, ECO:0000269 PubMed:15940697, ECO:0000269 PubMed:22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cole disease (COLED) [MIM:615522]: A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. {ECO:0000269 PubMed:24075184}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:16186408}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]: A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. {ECO:0000269 PubMed:20137772, ECO:0000269 PubMed:20137773}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]: A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. {ECO:0000269 PubMed:10453738}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ENPP1

Genetic Association Database (GAD)
ENPP1
Human Genome Epidemiology (HuGE) Navigator
ENPP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPP1
genes like me logo Genes that share disorders with ENPP1: view

No data available for Genatlas for ENPP1 Gene

Publications for ENPP1 Gene

  1. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (PMID: 10453738) Nakamura I. … Nakamura Y. (Hum. Genet. 1999) 3 4 23 48 67
  2. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. (PMID: 20137772) Levy-Litan V. … Parvari R. (Am. J. Hum. Genet. 2010) 3 23
  3. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (PMID: 20137773) Lorenz-Depiereux B. … Strom T.M. (Am. J. Hum. Genet. 2010) 3 23
  4. Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity. (PMID: 18940878) Santoro N. … Del Giudice E.M. (J. Clin. Endocrinol. Metab. 2009) 3 23
  5. The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population. (PMID: 18948963) Morandi A. … Meyre D. (Obesity (Silver Spring) 2009) 3 23

Products for ENPP1 Gene

Sources for ENPP1 Gene

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