AGPS: Alkylglycerone Phosphate Synthase
Peroxisomal enzyme essential for ether phospholipid biosynthesis
Gene Information Card
| Symbol | AGPS |
|---|---|
| Full Name | Alkylglycerone Phosphate Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000116044 |
| UniProt ID | O00116 |
| OMIM ID | 603051 |
| HGNC ID | HGNC:327 |
| Aliases | ADAP, ADAP1, ADAP-S, ADHAPS, ALDHPSY, DAFAR, RCDP3 |
Description
The AGPS gene encodes alkylglycerone phosphate synthase, a peroxisomal enzyme that catalyzes the second step of ether phospholipid (plasmalogen) biosynthesis. It replaces the acyl chain of acyl-dihydroxyacetone phosphate with a long-chain alcohol, forming alkyl-dihydroxyacetone phosphate. Mutations in AGPS cause rhizomelic chondrodysplasia punctata type 3 (RCDP3), a peroxisomal biogenesis disorder characterized by skeletal abnormalities, cataracts, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rhizomelic chondrodysplasia punctata type 3 (RCDP3) | Loss-of-function mutations in AGPS impair ether lipid synthesis, leading to plasmalogen deficiency and peroxisomal dysfunction. | OMIM #600121; multiple case reports in ClinVar and PubMed |
| Peroxisomal biogenesis disorder spectrum | Deficiency in AGPS contributes to broader peroxisomal disorders with overlapping features. | Inferred from RCDP3 phenotype; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
| HeLa | 4.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.875G>A (p.Arg292His) | Missense | Rare | Loss of enzyme activity; associated with RCDP3 |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; pathogenic in RCDP3 |
| c.1240C>T (p.Arg414*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported AGPS mutations are loss-of-function, leading to reduced or absent plasmalogen synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • alkylglycerone-phosphate synthase activity | • ether lipid biosynthetic process |
| • peroxisome | • oxidoreductase activity |
| • zinc ion binding |
Pathways
• Ether lipid metabolism (Reactome: R-HSA-1483206)
• Peroxisomal lipid metabolism (KEGG: hsa04146)
Protein Summary
Alkylglycerone phosphate synthase (AGPS) is a 658-amino-acid peroxisomal protein with a flavin adenine dinucleotide (FAD)-binding domain and a catalytic domain. It converts acyl-dihydroxyacetone phosphate to alkyl-dihydroxyacetone phosphate, a key step in plasmalogen synthesis. Plasmalogens are abundant in myelin, cell membranes, and signaling lipids. Deficiency leads to RCDP3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPS Knockout HEK293 Cell Line | EDJ-KQ6276 | Human | 8540 | Details Get a Quote |
| AGPS Knockout A-549 Cell Line | EDJ-KQ30164 | Human | 8540 | Details Get a Quote |
| AGPS Knockout HCT 116 Cell Line | EDJ-KQ30165 | Human | 8540 | Details Get a Quote |
| AGPS Knockout HeLa Cell Line | EDJ-KQ30166 | Human | 8540 | Details Get a Quote |
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