IMPAD1 Mouse

The IMPAD1 gene is located on chromosome 8q12.1 in humans . The mouse IMPAD1 protein has a short N-terminal tail, a transmembrane domain, and an N-glycosylation site . The recombinant mouse IMPAD1 protein is often produced in Chinese Hamster Ovary (CHO) cells and includes an N-terminal 6-His tag for purification purposes .

IMPAD1 is a PAP-specific phosphatase that removes the 3’-phosphate from PAP, which is cytotoxic, to form non-toxic AMP . This activity is crucial for the regulation of sulfur metabolism, as PAP can inhibit many sulfotransferases . The recombinant mouse IMPAD1 protein has been shown to have robust 3’-nucleotidase activity towards PAP, and its activity can be inhibited by lithium in a noncompetitive manner .

IMPAD1 is expressed in various tissues, including the brain, spinal cord, lung, kidney, and costal cartilage . It is particularly important in cartilage development, as evidenced by studies on Gpapp -/- mice (the mouse equivalent of IMPAD1). These mice exhibit severe respiratory distress, dwarfism, and abnormal cartilage morphology, highlighting the protein’s role in skeletal development .

Mutations in the IMPAD1 gene have been associated with a condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, micrognathia, cleft palate, and facial dysmorphism . This condition is inherited in an autosomal recessive manner, and several loss-of-function mutations have been identified in affected individuals .

Recombinant mouse IMPAD1 protein is used in various research applications, including enzyme activity assays and studies on sulfur metabolism . The protein is available in both carrier-free and BSA-containing formulations, depending on the specific requirements of the experimental setup .