Gene Symbol | CANT1 |
Entrez Gene ID | 124583 |
Full Name | calcium activated nucleotidase 1 |
Synonyms | DBQD,DBQD1,EDM7,SCAN-1,SCAN1,SHAPY |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Desbuquois dysplasia 1, 251450 (3); Epiphyseal dysplasia, multiple, 7, 617719 (3) |