AGPS alkylglycerone phosphate synthase
Gene ID: 8540, updated on 10-Oct-2024Gene type: protein coding
Also known as: ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY
- See all available tests in GTR for this gene
- Go to complete Gene record for AGPS
- Go to Variation Viewer for AGPS variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Rhizomelic chondrodysplasia punctata type 3 | not available |
Genomic context
- Location:
- 2q31.2
- Sequence:
- Chromosome: 2; NC_000002.12 (177392773..177543834)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGPS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AGPS database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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