Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 129 bp deletion in exon 1
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-APRT, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Adenine phosphoribosyltransferase (APRT) also known as APTR is an enzyme involved in the purine salvage pathway. It has a molecular mass of approximately 23 kDa and gets expressed in numerous tissues including the liver kidney and brain. This protein catalyzes the conversion of adenine and phosphoribosyl pyrophosphate (PRPP) to adenosine monophosphate (AMP) facilitating the reutilization of adenine into nucleotides which is necessary for DNA and RNA synthesis.
Biological function summary
Adenine phosphoribosyltransferase plays a role in cellular nucleotide pool maintenance by rescuing adenine from degradation and incorporating it back into cellular metabolism. This enzyme does not form part of a larger enzyme complex but acts independently to perform its catalytic function. Properly maintaining nucleotide balance is fundamental for cellular activities and imbalances can lead to cellular stress or DNA damage responses.
Pathways
The purine salvage pathway is where adenine phosphoribosyltransferase functions critically. This pathway operates alongside the de novo synthesis of purine nucleotides working to conserve energy and resources during nucleotide synthesis. APRT interacts closely with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) within this salvage process to recycle purines effectively reducing the need for energy-expensive de novo synthesis.
Defects in the adenine phosphoribosyltransferase gene can result in the condition known as APRT deficiency. This genetic disorder leads to the buildup of 28-dihydroxyadenine causing nephrolithiasis and potential kidney damage. APRT's function connects with xanthine oxidase activity influencing uric acid metabolism. The accumulation of poorly soluble adenine derivatives can also cause crystalluria and can influence uric acid levels connecting APRT to the pathophysiology of gout in some cases.
