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Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2) is a Protein Coding gene. Diseases associated with ALDH3A2 include Sjogren-Larsson Syndrome and Spastic Diplegia. Among its related pathways are Peroxisomal lipid metabolism and Pyruvate metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004028 | 3-chloroallyl aldehyde dehydrogenase activity | IBA | 21873635 |
GO:0004029 | aldehyde dehydrogenase (NAD) activity | IMP | 8528251 |
GO:0005515 | protein binding | IPI | 25047030 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005778 | peroxisomal membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Tryptophan metabolism | ||
3 | Peroxisomal lipid metabolism | ||
4 | Sphingolipid metabolism | ||
5 | Arginine and proline metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001561 | fatty acid alpha-oxidation | TAS | -- |
GO:0006081 | cellular aldehyde metabolic process | NAS | 8528251 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0007417 | central nervous system development | IMP | 8528251 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
acetic acid | Approved | Pharma | Full agonist, Agonist | 130 | ||
gamma-Aminobutyric acid | Approved, Investigational | Pharma | 27 | |||
Water | Approved | Pharma | 0 | |||
beta-Alanine | Experimental | Pharma | Full agonist, Agonist | Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
nadph |
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53-57-6 | ||||
(S)-Methylmalonic acid semialdehyde |
|
99043-16-0 |
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2,5-Dioxopentanoate |
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2-Propyn-1-al |
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3a,7a-Dihydroxy-5b-cholestan-26-al |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | - | - | - | ||||||||||||||
SP9: | - | - | |||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ALDH3A2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ALDH3A2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Aldh3a2 17 33 32 |
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||
cow (Bos Taurus) |
Mammalia | ALDH3A2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Aldh3a2 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ALDH3A2 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | ALDH3A2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ALDH3A2 33 32 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | aldh3a2 32 |
|
||
Str.7466 32 |
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||||
zebrafish (Danio rerio) |
Actinopterygii | aldh3a2b 33 |
|
ManyToMany | |
LOC100000026 32 |
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aldh3a2a 33 |
|
ManyToMany | |||
aldh3a1 33 |
|
ManyToMany | |||
Dr.5533 32 |
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||||
fruit fly (Drosophila melanogaster) |
Insecta | Aldh-III 33 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | alh-5 33 32 |
|
ManyToMany | |
alh-4 33 |
|
ManyToMany | |||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HFD1 33 |
|
OneToMany | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | ALDH3I1 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6683 33 |
|
ManyToMany | |
CSA.9635 33 |
|
ManyToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs61737992 | likely-benign, not specified, not provided | 19,671,783(+) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
rs67939114 | Sjoegren-Larsson syndrome (SLS) [MIM:270200] | 19,671,852(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
rs72547556 | pathogenic, not provided, Sjoegren-Larsson syndrome (SLS) [MIM:270200] | 19,651,584(+) | T/A | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
rs72547558 | Sjoegren-Larsson syndrome (SLS) [MIM:270200] | 19,651,710(+) | T/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
rs72547559 | Sjoegren-Larsson syndrome (SLS) [MIM:270200] | 19,651,734(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659432 | CNV | deletion | 23128226 |
esv2758679 | CNV | loss | 17122850 |
esv3554235 | CNV | deletion | 23714750 |
esv3640179 | CNV | loss | 21293372 |
esv3892981 | CNV | gain | 25118596 |
esv4947 | CNV | loss | 18987735 |
nsv1061317 | CNV | gain | 25217958 |
nsv1061408 | CNV | gain | 25217958 |
nsv1063892 | CNV | gain | 25217958 |
nsv1071062 | CNV | deletion | 25765185 |
nsv1138504 | CNV | deletion | 24896259 |
nsv428337 | CNV | loss | 18775914 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sjogren-larsson syndrome |
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spastic diplegia |
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spastic cerebral palsy |
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quadriplegia |
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ichthyosis |
|