Description:
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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Biopsy Source
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Abdomen
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ENPP1 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
Y312X; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| Identified Mutation |
TYR312TER |
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| Gene |
ENPP1 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
N792S; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
| Identified Mutation |
ASN792SER |
| Remarks |
Deceased at age 25 days; cardiomegaly; hepatosplenomegaly; nephromegaly; hypertension at birth; extensive mineralization of walls of elastic arteries, polyhydramnios & fetal macrosomia; sev atherosclerosis; congestive heart failure; donor subject is a compound heterozygote: one allele carries a T>G transversion at nucleotide 936 (936T>G) in exon 9 of the ENPP1 gene, which results in a nonsense mutation at codon 312 [TYR312TER (Y312X)]; the second allele carries an A>G transition at nucleotide 2375 (2375A>G) in exon 23, which results in a missense mutation at codon 792 [ASN792SER (N792S)]. |
| Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P, Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet34(4):379-81 2003 |
| PubMed ID: 12881724 |
| dbSNP |
dbSNP ID: 14917 |
| Gene Cards |
ENPP1 |
| Gene Ontology |
GO:0003676 nucleic acid binding |
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GO:0004519 endonuclease activity |
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GO:0004551 nucleotide diphosphatase activity |
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GO:0006091 energy pathways |
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GO:0006796 phosphate metabolism |
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GO:0007584 response to nutrients |
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GO:0009117 nucleotide metabolism |
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GO:0016021 integral to membrane |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:5167 |
| NCBI GTR |
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 |
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208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| OMIM |
173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 |
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208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| Omim Description |
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY |
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ARTERIOPATHY, OCCLUSIVE INFANTILECORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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