AGPS Chromosome 2
Alkylglycerone phosphate synthase
Upload your DNA to see your personal genotypes for variants in AGPS.
What This Gene Does
This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
2q31.2
Ensembl
ENSG00000018510
Associated Conditions (4)
AGPS-related disorder
Rhizomelic chondrodysplasia punctata type 3
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata
Key Variants
RS1201994217
Conflicting classifications of pathogenicity
AGPS-related disorder, AGPS-related disorder
Health Risk
RS148418568
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS150977180
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS182602770
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS200039061
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS201282509
Conflicting classifications of pathogenicity
Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases
Health Risk
RS375684020
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS539573652
Conflicting classifications of pathogenicity
Health Risk
RS754647491
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755884284
Conflicting classifications of pathogenicity
Health Risk
RS759313804
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
Health Risk
RS759572190
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1201994217 | Health Risk | Conflicting classifications of pathogenicity | AGPS-related disorder, AGPS-related disorder |
| RS148418568 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS150977180 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS182602770 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS200039061 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS201282509 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases |
| RS375684020 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS539573652 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754647491 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755884284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759313804 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS759572190 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3 |
| RS761831871 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS765895661 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS767584572 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 3 |
| RS774279058 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778087162 | Health Risk | Conflicting classifications of pathogenicity | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata type 3 |
| RS886044553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121434411 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS121434412 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata type 3 |
| RS1295954187 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS1345538545 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS1685908703 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS1686427549 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2105675391 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2105693633 | Health Risk | Likely pathogenic | — |
| RS2468125860 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468129580 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468129774 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468138852 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468138958 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata |
| RS2468525239 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468547973 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468548073 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468548358 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468548402 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468548491 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS2468557012 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS121434413 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS387907214 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |
| RS1686426425 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3 |