SCP2 across dismech

SCP2 (sterol carrier protein 2) is named by 1 disorder entry. The locus encodes two proteins, the peroxisomal thiolase SCPx and the lipid-transfer protein SCP2.

Normal function

ai-gene-review gives two core molecular functions, one per product: cholesterol transfer activity; and propionyl-CoA C2-trimethyltridecanoyltransferase activity, acting in bile acid biosynthetic process; fatty acid beta-oxidation; and sterol transport.

Disease records

The one entry types SCP2 as causative: Sterol Carrier Protein 2 Deficiency, with a germline variant origin and a functional impact of loss of function. SCP2 sits on the node SCPx Loss of Function, which carries the thiolase activity as its lost molecular function. ClinGen rates the relationship definitive.

Where the layers agree and disagree

The KB places the thiolase on the SCP2 node and the beta-oxidation and bile-acid processes on downstream nodes that do not name the gene, so the exact-identifier overlap between KB processes on SCP2's own nodes and ai-gene-review core processes is 0.