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ALDH4A1 - aldehyde dehydrogenase 4 family member A1
- Synonym(s) : Delta-1-pyrroline-5-carboxylate dehydrogenase, L-glutamate gamma-semialdehyde dehydrogenase, P5CDh
- Previous symbols and names : ALDH4, aldehyde dehydrogenase 4 family, member A1
- Type : gene with protein product
- Chromosomal location : 1p36.13
- OMIM: 606811
- HGNC: 406
- UniProtKB: P30038
- Genatlas: ALDH4A1
- GenCC: ALDH4A1
- Ensembl: ENSG00000159423
- IUPHAR-DB: -
- Reactome: P30038
- LOVD: ALDH4A1
Diseases list
- Disease-causing germline mutation(s) in Hyperprolinemia type 2
ORPHA:79101 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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