Entrez gene ID | | 124583 |
Official gene symbol | | CANT1 |
Full name | | calcium activated nucleotidase 1 |
Aliases | | ,DBQD,SCAN-1,SCAN1,SHAPY, |
Gene summary | | This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene. |
Location | | Chromosome: 17 Locus: 17q25.3 |
Gene position | | 77005899 - 76987798 Map Viewer |
Gene orientation | | minus |
Gene size | | 18102 bp |
Gene sequence |
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OMIM ID | | 613165 |