AlphaFold predicted structure
GNPAT · O15228
Mean pLDDT
88.5/ 100
Confident
680 residues
Confidence breakdown
- Very high(≥ 90)74%
- Confident(70–90)18%
- Low(50–70)3%
- Very low(< 50)6%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GNPAT
Chr 1q42.2glyceronephosphate O-acyltransferase
- Aliases:
- DHAPAT, DAPAT, DAP-AT
- MANE:
- ENST00000366647.9
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 pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalPeroxisomal disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
rhizomelic chondrodysplasia punctata type 2
0.82rhizomelic chondrodysplasia punctata
0.75neurodegenerative disease
0.41glyceronephosphate O-acyltransferase deficiency
0.37Alzheimer disease
0.36Parkinson disease
0.36lysosomal storage disease
0.36multiple sclerosis
0.36preeclampsia
0.26hereditary disease
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dihydroxyacetone phosphate acyltransferase
Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology