CANT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CANT1 wild-type allele is located in the vicinity of 17q25.3 and is approximately 18 kb in length. This allele, which encodes soluble calcium-activated nucleotidase 1 protein, is involved in the modulation of both signaling and nucleotide hydrolysis. Both deletions and point mutations in the gene are associated with Desbuquois dysplasia.

**Synonyms:** - Ca2+-Dependent Endoplasmic Reticulum Nucleoside Diphosphatase Gene - Calcium Activated Nucleotidase 1 wt Allele - DBQD - Micromelic Dwarfism With Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification Gene - SCAN-1 - SCAN1 - SHAPY - Soluble Ca-Activated Nucleotidase, Isozyme 1 Gene - Soluble Calcium-Activated Nucleotidase SCAN-1 Gene