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ALDH18A1 - aldehyde dehydrogenase 18 family member A1
- Synonym(s) : delta-1-pyrroline-5-carboxylate synthase, P5CS
- Previous symbols and names : GSAS, PYCS, SPG9, aldehyde dehydrogenase 18 family, member A1, pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase), spastic paraplegia 9 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 10q24.1
- OMIM: 138250
- HGNC: 9722
- UniProtKB: P54886
- Genatlas: ALDH18A1
- GenCC: ALDH18A1
- Ensembl: ENSG00000059573
- IUPHAR-DB: -
- Reactome: P54886
- LOVD: ALDH18A1
Diseases list
- Disease-causing germline mutation(s) in ALDH18A1-related De Barsy syndrome
ORPHA:35664 
- Disease-causing germline mutation(s) in Autosomal dominant cutis laxa
ORPHA:90348 - Disease-causing germline mutation(s) (loss of function) in Autosomal dominant spastic paraplegia type 9A
ORPHA:447753 - Disease-causing germline mutation(s) (loss of function) in Autosomal dominant spastic paraplegia type 9B
ORPHA:447757 - Disease-causing germline mutation(s) (loss of function) in Autosomal recessive spastic paraplegia type 9B
ORPHA:447760
: AssessedAdditional information
Patient-centred resources for this gene
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