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Aliases for ALDH3A2 Gene

Aliases for ALDH3A2 Gene

  • Aldehyde Dehydrogenase 3 Family Member A2 2 3 5
  • Aldehyde Dehydrogenase Family 3 Member A2 3 4
  • Microsomal Aldehyde Dehydrogenase 3 4
  • Fatty Aldehyde Dehydrogenase 2 3
  • Aldehyde Dehydrogenase 10 3 4
  • ALDH10 3 4
  • FALDH 3 4
  • Aldehyde Dehydrogenase 3 Family, Member A2 2
  • EC 4
  • SLS 3

External Ids for ALDH3A2 Gene

Previous HGNC Symbols for ALDH3A2 Gene

  • SLS
  • ALDH10

Previous GeneCards Identifiers for ALDH3A2 Gene

  • GC17P019722
  • GC17P021188
  • GC17P019455
  • GC17P019714
  • GC17P019492
  • GC17P019551
  • GC17P018931

Summaries for ALDH3A2 Gene

Entrez Gene Summary for ALDH3A2 Gene

  • 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]

GeneCards Summary for ALDH3A2 Gene

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 Glycerolipid metabolism and 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.

UniProtKB/Swiss-Prot for ALDH3A2 Gene

  • Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).

Additional gene information for ALDH3A2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH3A2 Gene

Genomics for ALDH3A2 Gene

GeneHancer (GH) Regulatory Elements for ALDH3A2 Gene

Promoters and enhancers for ALDH3A2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J019645 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 658.7 +1.0 1025 7.8 ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 ALDH3A2 ENSG00000264932 ENSG00000275982 PIR59862 ENSG00000231477 ZNF286B MAPK7 RNF112 LINC01984 ENSG00000267075
GH17J019670 Enhancer 1 ENCODE dbSUPER 19.4 +24.0 23986 2.6 FOXA2 ARID4B RAD21 YY1 CREM THAP11 NFKBIZ HMG20B RXRA SP5 ALDH3A2 SLC47A1P2 SLC47A1 SLC47A2 ENSG00000262681 ENSG00000252349 GC17M019705 GC17M019707
GH17J019726 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +79.7 79684 3.1 FOXA2 NFIB RAD21 YY1 ZNF335 ZNF23 EGR1 RCOR1 ATF7 EGR2 UPF3AP2 ENSG00000252349 ALDH3A2 SLC47A1 PRPSAP2 B9D1 SLC47A2 ALDH3A1 MAPK7 ENSG00000262681
GH17J019456 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.5 -187.4 -187350 8.8 HDGF PKNOX1 RB1 IRF4 ZNF766 ZNF143 ATF7 ETV6 IKZF2 RUNX3 LOC105371574 ZNF286B ENSG00000235979 ENSG00000264885 MFAP4 B9D1 MAPK7 UPF3AP2 LINC02094 EPN2
GH17J019767 Enhancer 0.9 Ensembl ENCODE 10.8 +118.5 118549 0.2 HDGF CTCF IRF2 RB1 SIN3A ERF KDM3A ZNF48 RAD21 ZNF335 SLC47A1 B9D1 MAPK7 MFAP4 ALDH3A2 ENSG00000252349 AKAP10 GC17M019770 LOC441784
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH3A2 gene promoter:
  • AP-1
  • IRF-1
  • C/EBPalpha
  • ATF-2
  • c-Jun

Genomic Locations for ALDH3A2 Gene

Genomic Locations for ALDH3A2 Gene
29,463 bases
Plus strand
29,463 bases
Plus strand

Genomic View for ALDH3A2 Gene

Genes around ALDH3A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH3A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH3A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH3A2 Gene

Proteins for ALDH3A2 Gene

  • Protein details for ALDH3A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fatty aldehyde dehydrogenase
    Protein Accession:
    Secondary Accessions:
    • Q6I9T3
    • Q93011
    • Q96J37

    Protein attributes for ALDH3A2 Gene

    485 amino acids
    Molecular mass:
    54848 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ALDH3A2 Gene

    Alternative splice isoforms for ALDH3A2 Gene


neXtProt entry for ALDH3A2 Gene

Post-translational modifications for ALDH3A2 Gene

  • Ubiquitination at Lys452 and posLast=266266
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALDH3A2 Gene

Domains & Families for ALDH3A2 Gene

Gene Families for ALDH3A2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ALDH3A2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH3A2: view

Function for ALDH3A2 Gene

Molecular function for ALDH3A2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=50 uM for hexanal {ECO:0000269 PubMed:9133646}; KM=32 uM for octanal {ECO:0000269 PubMed:9133646}; KM=23 uM for decanal {ECO:0000269 PubMed:9133646}; KM=19 uM for dodecanal {ECO:0000269 PubMed:9133646}; KM=23 uM for tetradecanal {ECO:0000269 PubMed:9133646}; KM=32 uM for hexadecanal {ECO:0000269 PubMed:9133646}; KM=21 uM for octadecanal {ECO:0000269 PubMed:9133646}; KM=280 uM for NAD {ECO:0000269 PubMed:9133646}; KM=8700 uM for NADp {ECO:0000269 PubMed:9133646}; Vmax=29 umol/min/mg enzyme with hexanal {ECO:0000269 PubMed:9133646}; Vmax=63 umol/min/mg enzyme with octanal {ECO:0000269 PubMed:9133646}; Vmax=73 umol/min/mg enzyme with decanal {ECO:0000269 PubMed:9133646}; Vmax=45 umol/min/mg enzyme with dodecanal {ECO:0000269 PubMed:9133646}; Vmax=40 umol/min/mg enzyme with hexadecanal {ECO:0000269 PubMed:9133646}; Vmax=46 umol/min/mg enzyme with octadecanal {ECO:0000269 PubMed:9133646}; Vmax=42 umol/min/mg enzyme with tetradecanal {ECO:0000269 PubMed:9133646}; pH dependence: Optimum pH is 9.8. {ECO:0000269 PubMed:9133646};

Enzyme Numbers (IUBMB) for ALDH3A2 Gene

Gene Ontology (GO) - Molecular Function for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA --
GO:0004029 aldehyde dehydrogenase (NAD) activity IMP,TAS --
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH3A2: view
genes like me logo Genes that share phenotypes with ALDH3A2: view

Human Phenotype Ontology for ALDH3A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH3A2 Gene

MGI Knock Outs for ALDH3A2:

Animal Model Products

miRNA for ALDH3A2 Gene

miRTarBase miRNAs that target ALDH3A2

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ALDH3A2 Gene

Localization for ALDH3A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH3A2 Gene

Microsome membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH3A2 gene
Compartment Confidence
extracellular 5
peroxisome 5
endoplasmic reticulum 5
mitochondrion 4
cytosol 3
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005778 peroxisomal membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with ALDH3A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH3A2 Gene

Pathways & Interactions for ALDH3A2 Gene

genes like me logo Genes that share pathways with ALDH3A2: view

Gene Ontology (GO) - Biological Process for ALDH3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation TAS --
GO:0006081 cellular aldehyde metabolic process NAS 8528251
GO:0007417 central nervous system development IMP 8528251
GO:0007422 peripheral nervous system development IMP 8528251
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ALDH3A2: view

No data available for SIGNOR curated interactions for ALDH3A2 Gene

Drugs & Compounds for ALDH3A2 Gene

(13) Drugs for ALDH3A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
gamma-Aminobutyric acid Approved, Investigational Pharma 263
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 116
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

(42) Additional Compounds for ALDH3A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
  • 2,5-Dioxopentanoate
  • 2-Oxoglutarate semialdehyde
  • 2-Oxoglutaric acid semialdehyde
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al
genes like me logo Genes that share compounds with ALDH3A2: view

Transcripts for ALDH3A2 Gene

Unigene Clusters for ALDH3A2 Gene

Aldehyde dehydrogenase 3 family, member A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A2 Gene

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: -
SP11: - - - - -

ExUns: 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d
SP1: - - -
SP2: -
SP8: - - -
SP9: - -

Relevant External Links for ALDH3A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH3A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH3A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH3A2 Gene

This gene is overexpressed in Adrenal Gland (x4.4).

Protein differential expression in normal tissues from HIPED for ALDH3A2 Gene

This gene is overexpressed in Nasal epithelium (20.9) and Adrenal (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH3A2 Gene

Protein tissue co-expression partners for ALDH3A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH3A2 Gene:


SOURCE GeneReport for Unigene cluster for ALDH3A2 Gene:


mRNA Expression by UniProt/SwissProt for ALDH3A2 Gene:

Tissue specificity: Detected in liver (at protein level).

Evidence on tissue expression from TISSUES for ALDH3A2 Gene

  • Liver(4.7)
  • Skin(4.6)
  • Nervous system(4.3)
  • Kidney(2.7)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH3A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • nail
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ALDH3A2: view

Orthologs for ALDH3A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH3A2 34 33
  • 99.15 (n)
(Canis familiaris)
Mammalia ALDH3A2 34 33
  • 86.56 (n)
(Mus musculus)
Mammalia Aldh3a2 16 34 33
  • 83.78 (n)
(Bos Taurus)
Mammalia ALDH3A2 34 33
  • 83.44 (n)
(Rattus norvegicus)
Mammalia Aldh3a2 33
  • 83.37 (n)
(Monodelphis domestica)
Mammalia ALDH3A2 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia ALDH3A2 34
  • 72 (a)
(Gallus gallus)
Aves ALDH3A2 34 33
  • 68.34 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh3a2 33
  • 66.05 (n)
Str.7466 33
(Danio rerio)
Actinopterygii aldh3a2b 34
  • 60 (a)
LOC100000026 33
  • 59.71 (n)
aldh3a2a 34
  • 58 (a)
aldh3a1 34
  • 52 (a)
Dr.5533 33
fruit fly
(Drosophila melanogaster)
Insecta Aldh-III 34 35
  • 42 (a)
(Caenorhabditis elegans)
Secernentea alh-5 34 33
  • 53.4 (n)
alh-4 34
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HFD1 34
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH3I1 33
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6683 34
  • 47 (a)
CSA.9635 34
  • 40 (a)
Species where no ortholog for ALDH3A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH3A2 Gene

Gene Tree for ALDH3A2 (if available)
Gene Tree for ALDH3A2 (if available)
Evolutionary constrained regions (ECRs) for ALDH3A2: view image

Paralogs for ALDH3A2 Gene

Paralogs for ALDH3A2 Gene

(4) SIMAP similar genes for ALDH3A2 Gene using alignment to 13 proteins:

  • I3L0X1_HUMAN
  • I3L1M4_HUMAN
  • I3L2W1_HUMAN
  • I3L4G6_HUMAN
  • J3QS00_HUMAN
  • K7EN73_HUMAN
genes like me logo Genes that share paralogs with ALDH3A2: view

Variants for ALDH3A2 Gene

Sequence variations from dbSNP and Humsavar for ALDH3A2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1036733598 pathogenic, likely-pathogenic, Sj\u00f6gren-Larsson syndrome 19,664,947(+) G/C/T splice_acceptor_variant
rs1040361780 uncertain-significance, Sj\u00f6gren-Larsson syndrome 19,648,875(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1057516386 likely-pathogenic, Sj\u00f6gren-Larsson syndrome 19,651,623(+) AA/A coding_sequence_variant, frameshift
rs1057516481 likely-pathogenic, Sj\u00f6gren-Larsson syndrome 19,651,674(+) A/AA coding_sequence_variant, frameshift
rs1057516742 likely-pathogenic, Sj\u00f6gren-Larsson syndrome 19,664,946(+) A/G splice_acceptor_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH3A2 Gene

Variant ID Type Subtype PubMed ID
nsv428337 CNV loss 18775914
nsv1138504 CNV deletion 24896259
nsv1071062 CNV deletion 25765185
nsv1063892 CNV gain 25217958
nsv1061408 CNV gain 25217958
nsv1061317 CNV gain 25217958
esv4947 CNV loss 18987735
esv3892981 CNV gain 25118596
esv3640179 CNV loss 21293372
esv3554235 CNV deletion 23714750
esv2758679 CNV loss 17122850
esv2659432 CNV deletion 23128226

Variation tolerance for ALDH3A2 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH3A2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3A2 Gene

Disorders for ALDH3A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ALDH3A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sjogren-larsson syndrome
  • sls
spastic diplegia
  • cerebral palsy
  • tetraplegia
spastic cerebral palsy
  • palsy, cerebral, spastic
  • ichthyoses
- elite association - COSMIC cancer census association via MalaCards


  • Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. {ECO:0000269 PubMed:10577908, ECO:0000269 PubMed:10792573, ECO:0000269 PubMed:8528251, ECO:0000269 PubMed:9254849, ECO:0000269 PubMed:9829906}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALDH3A2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH3A2: view

No data available for Genatlas for ALDH3A2 Gene

Publications for ALDH3A2 Gene

  1. A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. (PMID: 10792573) Aoki N … Ito M (The Journal of investigative dermatology 2000) 3 4 22 58
  2. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. (PMID: 10577908) Rizzo WB … Lin Z (American journal of human genetics 1999) 3 4 22 58
  3. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. (PMID: 9829906) Sillén A … Wadelius C (Human mutation 1998) 3 4 22 58
  4. Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). (PMID: 9027499) Rogers GR … Compton JG (Genomics 1997) 3 4 22 58
  5. Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. (PMID: 9133646) Kelson TL … Rizzo WB (Biochimica et biophysica acta 1997) 3 4 22 58

Products for ALDH3A2 Gene

Sources for ALDH3A2 Gene

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