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    ALDH3A2 aldehyde dehydrogenase 3 family, member A2 [ Homo sapiens (human) ]

    Gene ID: 224, updated on 22-May-2013
    Official Symbol
    ALDH3A2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 3 family, member A2provided by HGNC
    Primary source
    HGNC:403
    See related
    Ensembl:ENSG00000072210; HPRD:07188; MIM:609523; Vega:OTTHUMG00000059471
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLS; FALDH; ALDH10
    Summary
    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]
    Location :
    17p11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (19552064..19580908)
    See ALDH3A2 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene transfer RNA glutamine 41 (anticodon UUG) pseudogene Neighboring gene MT-ND2 pseudogene 12 Neighboring gene solute carrier family 47, member 2 Neighboring gene aldehyde dehydrogenase 3 family, member A1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. Aichem A, et al. J Cell Sci, 2012 Oct 1. PMID 22797925.
    2. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. Stehling O, et al. Science, 2012 Jul 13. PMID 22678362.
    3. The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. Nakahara K, et al. Mol Cell, 2012 May 25. PMID 22633490.
    4. Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation. Yiş U, et al. Turk J Pediatr, 2012 Jan-Feb. PMID 22397046.
    5. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.

    See all (49) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene.
      Title: Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
    2. the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid
      Title: The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.
    3. We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC.
      Title: Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
    4. We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2.
      Title: Large contiguous gene deletions in Sjögren-Larsson syndrome.
    5. SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes.
      Title: Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene.
    6. The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations.
      Title: An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
    7. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. FALDH deficiency in keratinocytes from patients with Sjogren-Larsson syndrome causes accumulation and diversion of fatty alcohol into alternative biosynthetic pathways.
      Title: Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
    10. A structural model of FALDH has been constructed, and catalytically important residues have been proposed to be involved in alcohol and aldehyde oxidation: Gln-120, Glu-207, Cys-241, Phe-333, Tyr-410 and His-411.
      Title: Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
    Submit: New GeneRIF Correction See all (18)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:106726 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:110455 MME    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:122103 MMS19    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:215010 Mad2l2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:117421 NELFB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:203518 Stag2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106726 BioGRID:131884 USP50    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ20851, DKFZp686E23276

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aldehyde dehydrogenase (NAD) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    aldehyde dehydrogenase (NAD) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    aldehyde dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    long-chain-alcohol oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    long-chain-aldehyde dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    medium-chain-aldehyde dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cellular aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cellular aldehyde metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    phytol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    sesquiterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    fatty aldehyde dehydrogenase
    Names
    fatty aldehyde dehydrogenase
    aldehyde dehydrogenase 10
    microsomal aldehyde dehydrogenase
    aldehyde dehydrogenase family 3 member A2
    NP_000373.1
    NP_001026976.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007095.2 RefSeqGene

      Range
      5001..33845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000382.2 → NP_000373.1  fatty aldehyde dehydrogenase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region compared to variant 1. Isoform 2 has a shorter and different C-terminus, compared to isoform 1.
      Source sequence(s)
      AK123877, BC002430, L47162, U46689
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648
      Related
      ENSP00000176643, OTTHUMP00000065799, ENST00000176643, OTTHUMT00000132268
      Conserved Domains (2) summary
      cd07132
      Location:5 – 444
      Blast Score: 2055
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
      PTZ00381
      Location:5 – 447
      Blast Score: 1546
      PTZ00381; aldehyde dehydrogenase family protein; Provisional

    2. NM_001031806.1 → NP_001026976.1  fatty aldehyde dehydrogenase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005722, AK123877, BC002430, BG699030
      Consensus CDS
      CCDS32589.1
      UniProtKB/Swiss-Prot
      P51648
      Related
      ENSP00000345774, OTTHUMP00000065800, ENST00000339618, OTTHUMT00000132269
      Conserved Domains (2) summary
      cd07132
      Location:5 – 444
      Blast Score: 2059
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins
      PTZ00381
      Location:5 – 447
      Blast Score: 1549
      PTZ00381; aldehyde dehydrogenase family protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      19552064..19580908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      18931182..18960005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      19540719..19569559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01054599.1 (17938..46761) None
    genomic AC005722.1 (157536..179592) None
    genomic AC115989.6 None
    genomic AMYH01008238.1 (8341..37181) None
    genomic CH471212.1 EAW50898.1
      EAW50899.1
      EAW50900.1
    genomic U75286.1 AAC50966.1
    genomic U75295.1 AAC50965.1
    genomic U75296.1 AAC50966.1
    mRNA AB208894.1 BAD92131.1
    mRNA AK000858.1 None
    mRNA AK025677.1 None
    mRNA AK123877.1 None
    mRNA AK292381.1 BAF85070.1
    mRNA AK315096.1 BAG37560.1
    mRNA BC002430.2 AAH02430.1
    mRNA BG699030.1 None
    mRNA CR457422.1 CAG33703.1
    mRNA CR749559.1 CAH18356.1
    mRNA L47162.1 AAB01003.1
    mRNA U46689.1 AAC51121.1
    other-genetic DQ895880.2 ABM86806.1
    other-genetic EU176377.1 ABW03828.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51648.1 GenPept UniProtKB/Swiss-Prot:P51648

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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      Supplemental Content

      Table of contents

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      • Order cDNA clone
        Order cDNA clone
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        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
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        Related GEO
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        GTR associated with a gene
      • HomoloGene
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      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
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        Related Probe entry
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      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        Gene Genotype Report
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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