ALDH18A1 Chromosome 10
Aldehyde dehydrogenase 18 family member A1
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What This Gene Does
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]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000059573
Associated Conditions (24)
Cutis laxa
autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Hereditary spastic paraplegia 9A
ALDH18A1-related disorder
ALDH18A1-related de Barsy syndrome
Inborn genetic diseases
Hereditary spastic paraplegia
Autosomal recessive complex spastic paraplegia type 9B
Malignant lymphoma
large B-cell
diffuse
Abnormality of the nervous system
Colon adenocarcinoma
Hereditary spastic paraplegia 5A
Spondyloepiphyseal dysplasia
Stanescu type
Intellectual disability
Thyroid cancer
+4 more conditions
Key Variants
RS1202802893
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS121434582
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS1230591674
Conflicting classifications of pathogenicity
Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa
Health Risk
RS139035272
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS143874727
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9
Health Risk
RS144816455
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS145294634
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS1462559161
Conflicting classifications of pathogenicity
Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9
Health Risk
RS148601288
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS150472102
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa
Health Risk
RS150526956
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
RS188362786
Conflicting classifications of pathogenicity
ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1202802893 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS121434582 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS1230591674 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa |
| RS139035272 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS143874727 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9 |
| RS144816455 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa |
| RS145294634 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS1462559161 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS148601288 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa |
| RS150472102 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, Cutis laxa |
| RS150526956 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS188362786 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS200730342 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS201069261 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant spastic paraplegia type 9, de Barsy syndrome, Cutis laxa |
| RS201428777 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9 |
| RS201520042 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS2097895286 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, de Barsy syndrome |
| RS2139642879 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A, Autosomal recessive complex spastic paraplegia type 9B |
| RS2526867772 | Health Risk | Conflicting classifications of pathogenicity | de Barsy syndrome, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS369979669 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS370680325 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS374052426 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS374652686 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS375782465 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS537043237 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Abnormality of the nervous system, Autosomal dominant spastic paraplegia type 9 |
| RS537733180 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS546156675 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS552325165 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS570730665 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, Autosomal dominant spastic paraplegia type 9 |
| RS571140165 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, ALDH18A1-related disorder, ALDH18A1-related de Barsy syndrome |
| RS752470665 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS753823851 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Cutis laxa, autosomal dominant 3 |
| RS756690468 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, de Barsy syndrome, Cutis laxa |
| RS758219423 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cutis laxa, autosomal dominant 3 |
| RS761744291 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B |
| RS762271422 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 5A, Autosomal dominant spastic paraplegia type 9, Cutis laxa |
| RS762588270 | Health Risk | Conflicting classifications of pathogenicity | Cutis laxa, autosomal dominant 3, de Barsy syndrome |
| RS762742204 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS765380273 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia, Stanescu type, Autosomal recessive complex spastic paraplegia type 9B |
| RS766264810 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 9A, Cutis laxa, autosomal dominant 3 |
| RS767594147 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Cutis laxa, autosomal dominant 3 |
| RS76824727 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia, ALDH18A1-related de Barsy syndrome |
| RS768323248 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive complex spastic paraplegia type 9B, de Barsy syndrome, Cutis laxa |
| RS770815414 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive complex spastic paraplegia type 9B, ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia 9A |
| RS771965130 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Autosomal dominant spastic paraplegia type 9, de Barsy syndrome |
| RS772389382 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Autosomal dominant spastic paraplegia type 9, de Barsy syndrome |
| RS773714478 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia, Stanescu type, Cutis laxa |
| RS774047299 | Health Risk | Conflicting classifications of pathogenicity | ALDH18A1-related de Barsy syndrome, Cutis laxa, autosomal dominant 3 |
| RS774081826 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9, de Barsy syndrome |
| RS775098819 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Autosomal dominant spastic paraplegia type 9, de Barsy syndrome |