Health / Medical Topics |
CANT1 wt Allele
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. (NCI Thesaurus)
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