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Validated All-in-One™ qPCR Primer for CPS1(NM_001122633.3) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
The protein encoded by this gene is an enzyme that catalyzes the first committed step of the hepatic urea cycle, which is important in the removal of excess urea from cells. There are two isozymes of this enzyme, and the encoded protein is the mitochondrial form. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. [provided by RefSeq].
Gene References into function
- The entire DNA sequence of the human CPS1 gene is presented, including all exon-intron boundaries.
- CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to pulmonry hypertension following surgical repair of congenital cardiac defects in children.
- CPPS1 T1404N polymorphism may be associated with the risk of necrotizing enterocolitis in preterm infants.