CANT1 Human

The CANT1 gene is located on chromosome 17 and encodes a protein that is involved in various cellular processes. The protein has a molecular mass of approximately 37 kDa and is composed of 401 amino acids. It contains an N-terminal 6-His tag, which is often used for purification purposes in recombinant protein production .

CANT1 plays a crucial role in the hydrolysis of nucleotides, specifically targeting the beta 5’-phosphate group from substrates like UDP. This activity is essential for the regulation of nucleotide levels within the cell and is involved in proteoglycan synthesis . The enzyme’s activity is calcium-dependent, meaning that it requires the presence of calcium ions to function effectively .

Mutations in the CANT1 gene are associated with several disorders, including Desbuquois dysplasia with hand anomalies and Epiphyseal Dysplasia, Multiple, 7. These conditions are characterized by skeletal abnormalities and other developmental issues . The enzyme’s role in proteoglycan synthesis is particularly significant in the context of these disorders, as proteoglycans are essential components of the extracellular matrix and play a vital role in maintaining the structural integrity of tissues .

Recombinant human CANT1 protein is produced using various expression systems, including bacterial, yeast, and mammalian cells. The recombinant protein is typically purified to high levels of purity, often exceeding 95%, and is used in various research applications, including enzyme activity assays and structural studies . The recombinant protein is supplied as a filtered solution in Tris, NaCl, and Glycerol, and is stable for several months when stored at -70°C .

The recombinant CANT1 protein is widely used in research to study its enzymatic activity, structure, and role in various cellular processes. It is also used to investigate the effects of mutations on enzyme function and to develop potential therapeutic strategies for conditions associated with CANT1 mutations .