UPB1 : beta-ureidopropionase 1


Description

The UPB1 (beta-ureidopropionase 1) is a protein-coding gene located on chromosome 22.

The UPB1 gene provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA.The beta-ureidopropionase enzyme is involved in the last step of the process that breaks down pyrimidines. This step converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous system. Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. Research suggests that beta-alanine is involved in sending signals between nerve cells (synaptic transmission) and in controlling the level of a chemical messenger (neurotransmitter) called dopamine.

The UPB1 gene encodes the enzyme beta-ureidopropionase, which is involved in the breakdown of pyrimidines, components of DNA and RNA. This enzyme catalyzes the final step in pyrimidine degradation, converting N-carbamoyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide (PubMed:10542323, PubMed:11508704, PubMed:10415095, PubMed:29976570, PubMed:22525402, PubMed:24526388). It also converts N-carbamoyl-beta-aminoisobutyrate to beta-aminoisobutyrate, ammonia, and carbon dioxide (Probable). (PubMed:10415095, PubMed:10542323, PubMed:11508704, PubMed:22525402, PubMed:24526388, PubMed:29976570).

UPB1 is also known as BUP1.

Associated Diseases


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