CAD across dismech

CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is named by 1 disorder entry.

Normal function

ai-gene-review gives CAD's core molecular functions as aspartate carbamoyltransferase activity; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity; and dihydroorotase activity, the first three steps of de novo pyrimidine synthesis carried on one polypeptide, acting in 'de novo' UMP biosynthetic process; and 'de novo' pyrimidine nucleobase biosynthetic process.

Causative record

The one entry that names CAD, Developmental and Epileptic Encephalopathy 50, types it causative with a germline origin. ClinGen rates the gene definitive for this disease. The gene sits on the node Biallelic CAD Loss of Function, which marks all three of the catalytic activities above as decreased.

Where the layers disagree

The pyrimidine-synthesis process terms sit on a downstream node that does not itself name CAD, so the gene's own nodes share 0 process terms with ai-gene-review by identifier, although the molecular functions agree term for term.