Aliases: ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S.
AGPS (alkylglycerone phosphate synthase) is named by 1 disorder entry. It encodes the peroxisomal enzyme that forms the ether bond in the second step of plasmalogen synthesis.
The ai-gene-review core functions for AGPS name alkylglycerone-phosphate synthase activity; ether lipid biosynthetic process; peroxisomal matrix; peroxisomal membrane.
One entry types AGPS as causative: Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect, recording the variants as germline. There the gene sits on the node Plasmalogen-Synthesis Enzyme Deficiency, which reaches the mechanism module peroxisomal_metabolic_failure.
The KB's mechanism annotations and the ai-gene-review core functions share the GO process ether lipid biosynthetic process. ClinGen classifies AGPS for 1 disease, alkylglycerone-phosphate synthase deficiency, which the join to dismech does not match to any entry.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
AGPS encodes alkylglycerone-phosphate synthase, a peroxisomal enzyme that creates the ether bond of ether-lipid precursors. It replaces the acyl group of acyl-dihydroxyacetone phosphate with a long-chain fatty alcohol, releasing a fatty acid and forming alkyl-dihydroxyacetone phosphate. FAD supports covalent catalysis without a net change in substrate oxidation state. The enzyme acts at the luminal surface of the peroxisomal membrane alongside GNPAT, which supplies its acyl-dihydroxyacetone phosphate substrate. AGPS is synthesized with a cleavable N-terminal PTS2 targeting sequence and imported through the PEX7 pathway; the precursor already has catalytic activity before processing. Its products feed ether phospholipid and plasmalogen synthesis. Biallelic loss of AGPS function causes rhizomelic chondrodysplasia punctata type 3, linking deficient ether-lipid production to skeletal, ocular and neurodevelopmental abnormalities.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Rhizomelic Chondrodysplasia Punctata, Plasmalogen-Synthesis Defect | causative germline |
mechanism: Plasmalogen-Synthesis Enzyme Deficiency
subtype: RCDP3
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| alkylglycerone-phosphate synthase deficiency MONDO:0100274 | AR | Definitive 2022-04-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.