CANT1, Antibody

For Research Use Only. Not for use in diagnostic procedures.

Rabbit

1.0mg/ml (lot specific)

Small volumes of anti-CANT1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB)

WB: 1:500-1:2000

38,946 Da

calcium activated nucleotidase 1

soluble calcium-activated nucleotidase 1

Soluble calcium-activated nucleotidase 1

SHAPY; SCAN-1  [Similar Products]

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

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: membrane

Molecular Function: adenosine-diphosphatase activity; calcium ion binding; guanosine-diphosphatase activity; protein homodimerization activity; signal transducer activity; uridine-diphosphatase activity

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

Disease: Desbuquois Dysplasia 1

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