ENPP1 wt Allele

**Semantic type:** Gene or Genome

**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.

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