ENPP1 wt Allele

Preferred Label : ENPP1 wt Allele;

NCIt synonyms : Alkaline Phosphodiesterase 1 Gene; Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 wt Allele; Membrane Component, Chromosome 6, Surface Marker 1 Gene; PDNP1; LY41, Mouse, Homolog of Gene; COLED; PCA1; NPPS; M6S1; Plasma-Cell Membrane Glycoprotein 1 Gene; Alkaline Phosphodiesterase I Gene; ARHR2; PC-1; Nucleotide Pyrophosphatase Gene; NPP1;

NCIt definition : Human ENPP1 wild-type allele is located in the vicinity of 6q23.2 and is approximately 87 kb in length. This allele, which encodes ectonucleotide pyrophosphatase/phosphodiesterase family member 1 protein, is involved in melanogenesis, bone mineralization and soft tissue calcification. Mutation of the gene is associated with generalized arterial calcification of infancy 1, ossification of the posterior longitudinal ligament of the spine, autosomal recessive hypophosphatemic rickets 2 and Cole disease and may be associated with increased susceptibility for obesity and non-insulin dependent diabetes mellitus.;

NCI Metathesaurus CUI : CL1791980;

GenBank Accession Number : M57736;

Details

Origin ID

C187093;

UMLS CUI

C5702827;

Automatic exact mappings (from CISMeF team)
- Alkb homolog 3, alpha-ketoglutarate-dependent dioxygenase [OMIM gene]
- Amyloidosis, primary localized cutaneous, 1 [OMIM Phenotype]
- Cole disease [OMIM Phenotype]
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
- Hypophosphatemic rickets, autosomal recessive, 2 [OMIM Phenotype]
- N-(3-pyridyl)-3-phenylsuccinimide [MeSH Supplementary Concept]
- ectonucleotide pyrophosphatase/phosphodiesterase 1 [ORDO Gene]
- polycystin 1, transient receptor potential channel interacting [ORDO Gene]
OMIM relation
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Nicotinate and Nicotinamide Metabolism Pathway [NCIt concept]
- Pantothenate and CoA Biosynthesis Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
- Riboflavin Metabolism Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Melanogenesis [NCIt concept]
- Mineralization [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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