CANT1
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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]
此基因编码的蛋白质属于apyrase家族。该蛋白作为依赖钙的核苷酸酶，对UDP具有偏好性。此基因的突变与伴有手部畸形的Desbuquois发育不良相关。此外，该基因存在选择性剪接的转录变体。[由RefSeq提供，2010年3月]
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