GNPAT across dismech

GNPAT (glyceronephosphate O-acyltransferase) is named by 1 disorder entry.

Normal function

ai-gene-review gives GNPAT's core molecular function as glycerone-phosphate O-acyltransferase activity, acting in ether lipid biosynthetic process at the peroxisomal membrane. This is the first acylation step of plasmalogen synthesis.

Disease records

The one entry naming GNPAT types it as causative: Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect, with a germline variant origin (germline). There GNPAT sits on the node Plasmalogen-Synthesis Enzyme Deficiency, which conforms to the module peroxisomal_metabolic_failure. The entry lumps the three single-enzyme plasmalogen-synthesis forms of RCDP, with GNPAT deficiency as the RCDP2 subtype.

Where the layers agree and disagree

The KB mechanism process and the ai-gene-review core process coincide: the shared GO process is ether lipid biosynthetic process. ClinGen classifies GNPAT for 1 disease, glyceronephosphate O-acyltransferase deficiency, under a MONDO identifier that is not the one the RCDP entry uses for its RCDP2 subtype, so the ClinGen tier is cited on the subtype but not recorded as a gene-disease validity assertion.