AlphaFold predicted structure
AGPS · O00116
Mean pLDDT
88.4/ 100
Confident
658 residues
Confidence breakdown
- Very high(≥ 90)81%
- Confident(70–90)4%
- Low(50–70)3%
- Very low(< 50)12%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
AGPS
Chr 2q31.2alkylglycerone phosphate synthase
- Aliases:
- ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S
- MANE:
- ENST00000264167.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalChondrodysplasia punctata
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalPeroxisomal disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
rhizomelic chondrodysplasia punctata type 3
0.81rhizomelic chondrodysplasia punctata
0.72neurodegenerative disease
0.45alkylglycerone-phosphate synthase deficiency
0.37Abnormality of the skeletal system
0.32cervical carcinoma
0.24placenta praevia
0.22insomnia
0.20hereditary disease
0.19synpolydactyly
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Alkyldihydroxyacetonephosphate synthase, peroxisomal
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