protein
Alkyldihydroxyacetonephosphate synthase, peroxisomal
aka Alkyl-DHAP synthase
Gene
AGPS
Organism
Homo sapiens(9606)
Length
658 aa
Mass
72,912 Da
Alkyldihydroxyacetonephosphate synthase (AGPS) is a peroxisomal enzyme that catalyzes the exchange of acyl chains in acyl-DHAP for long-chain fatty alcohols, producing alkyl-DHAP as the first ether-linked intermediate in ether lipid biosynthesis (UniProt: O00116). The enzyme is expressed in human tissues involved in lipid metabolism and cellular signaling. Mutations in AGPS cause rhizomelic chondrodysplasia punctata type 3 (RCDP3), a severe genetic disorder marked by skeletal dysplasia, dwarfism, cataracts, and intellectual disability.
AGPS is associated with Alzheimer's Disease and shows significant downregulation in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics: mean log2 fold-change −0.62). This reduction was detected across subcellular fractions in TMT-labeled quantitative proteomics analysis of human AD brain samples. The downregulation of ether lipid biosynthesis machinery in AD suggests potential disruption of myelin composition and neuronal membrane integrity, which may contribute to neurodegeneration in Alzheimer's disease pathology.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
not detected
P2
not detected
S2
not detected
S3
-0.619
Mean log₂FC across detected fractions: -0.6193 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis
Disease associations
Rhizomelic chondrodysplasia punctata 3RCDP3
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
Sources
Last updated 5/8/2026, 6:36:00 AM