CANT1 Antibody – Rabbit Polyclonal

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]

CANT1: Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis. Defects in CANT1 are the cause of Desbuquois dysplasia (DBQD). A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. Belongs to the apyrase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Endoplasmic reticulum; Membrane protein, integral; EC 3.6.1.6

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: signal transducer activity; calcium ion binding; uridine-diphosphatase activity

Biological Process: positive regulation of I-kappaB kinase/NF-kappaB cascade; proteoglycan biosynthetic process; signal transduction

Disease: Desbuquois Dysplasia 1