ALDH18A1 aldehyde dehydrogenase 18 family member A1
Gene ID: 5832, updated on 17-Jun-2024Gene type: protein coding
Also known as: GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A
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- Go to complete Gene record for ALDH18A1
- Go to Variation Viewer for ALDH18A1 variants
Summary
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| ALDH18A1-related de Barsy syndrome | See labs |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Autosomal recessive complex spastic paraplegia type 9B | See labs |
| Cutis laxa, autosomal dominant 3 | See labs |
| Hereditary spastic paraplegia 9A | See labs |
Genomic context
- Location:
- 10q24.1
- Sequence:
- Chromosome: 10; NC_000010.11 (95605941..95656711, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALDH18A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Aldehyde Dehydrogenase Gene Superfamily Resource
- ALDH18A1 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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