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

    Gene ID: 224, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ALDH3A2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 3 family member A2provided by HGNC
    Primary source
    HGNC:HGNC:403
    See related
    Ensembl:ENSG00000072210 MIM:609523; AllianceGenome:HGNC:403
    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]
    Expression
    Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ALDH3A2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19648136..19677596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19596758..19626215)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19551449..19580909)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MT-CO1 pseudogene 39 Neighboring gene SLC47A1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11859 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550219-19550869 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:19550870-19551519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11860 Neighboring gene uncharacterized LOC124900397 Neighboring gene NANOG hESC enhancer GRCh37_chr17:19567261-19567762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19584163-19584664 Neighboring gene solute carrier family 47 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19609675-19610312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19610313-19610950 Neighboring gene uncharacterized LOC124903948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19619375-19620224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19620225-19621072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19648320-19649287 Neighboring gene aldehyde dehydrogenase 3 family member A1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Expression Levels of the Oxidative Stress Response Gene ALDH3A2 in Granulosa-Lutein Cells Are Related to Female Age and Infertility Diagnosis. González-Fernández R, et al. Reprod Sci, 2016 May. PMID 26449735
    2. Sjögren-larsson syndrome and crystalline maculopathy associated with a novel mutation. Jean-François E, et al. Arch Ophthalmol, 2007 Nov. PMID 17998529
    3. An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. Sakai K, et al. Int J Dermatol, 2010 Sep. PMID 20883264
    4. Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene. Botelho Gomes JM, et al. Eur J Dermatol, 2011 May-Jun. PMID 21524986
    5. Large contiguous gene deletions in Sjögren-Larsson syndrome. Engelstad H, et al. Mol Genet Metab, 2011 Nov. PMID 21684788, Free PMC Article

    See all (172) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
      Title: Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity.
    2. Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
      Title: Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
    3. Macular crystalline inclusions in Sjogren-Larsson syndrome are dynamic structures that undergo remodeling.
      Title: Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.
    4. Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
      Title: Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.
    5. Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.
      Title: Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis.
    6. Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
      Title: Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
    7. We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene, which contains both, genotype information for individual patients as well as clinical data.
      Title: Genotype and phenotype variability in Sjögren-Larsson syndrome.
    8. Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect.
      Title: Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
    9. Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
      Title: Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
    10. recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently, H3K27me3 decrease is enriched on open chromatin around regulatory regions
      Title: Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Sjogren-Larsson syndrome
    MedGen: C0037231 OMIM: 270200 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20851, DKFZp686E23276

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-chloroallyl aldehyde dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldehyde dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables long-chain fatty aldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables long-chain-alcohol oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables medium-chain fatty aldehyde dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aldehyde metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aldehyde metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in aldehyde metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hexadecanal metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phytol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sesquiterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aldehyde dehydrogenase family 3 member A2
    Names
    aldehyde dehydrogenase 10
    fatty aldehyde dehydrogenase
    microsomal aldehyde dehydrogenase
    NP_000373.1
    NP_001026976.1
    NP_001356065.1
    NP_001356066.1
    NP_001356067.1
    NP_001356068.1
    NP_001356075.1
    NP_001356077.1
    XP_024306419.1
    XP_047291578.1
    XP_054171453.1
    XP_054171454.1

    NCBI Reference Sequences (RefSeq)

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    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..33846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000382.3 → NP_000373.1  aldehyde dehydrogenase family 3 member A2 isoform 2

      See identical proteins and their annotated locations for NP_000373.1

      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)
      AB208894, AC005722, AK123877, AK292381, DB261079
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000176643.6, ENST00000176643.11
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    2. NM_001031806.2 → NP_001026976.1  aldehyde dehydrogenase family 3 member A2 isoform 1

      See identical proteins and their annotated locations for NP_001026976.1

      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/TrEMBL
      A0A5F9ZGX4
      Related
      ENSP00000345774.4, ENST00000339618.8
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    3. NM_001369136.1 → NP_001356065.1  aldehyde dehydrogenase family 3 member A2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS32589.1
      UniProtKB/TrEMBL
      A0A5F9ZGX4
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    4. NM_001369137.2 → NP_001356066.1  aldehyde dehydrogenase family 3 member A2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS32589.1
      UniProtKB/TrEMBL
      A0A5F9ZGX4
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    5. NM_001369138.2 → NP_001356067.1  aldehyde dehydrogenase family 3 member A2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000461916.2, ENST00000581518.6
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    6. NM_001369139.1 → NP_001356068.1  aldehyde dehydrogenase family 3 member A2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      Consensus CDS
      CCDS11210.1
      UniProtKB/Swiss-Prot
      P51648, Q6I9T3, Q93011, Q96J37
      UniProtKB/TrEMBL
      Q59H65
      Related
      ENSP00000500092.1, ENST00000672357.1
      Conserved Domains (1) summary
      cd07132
      Location:5 → 444
      ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

    7. NM_001369146.2 → NP_001356075.1  aldehyde dehydrogenase family 3 member A2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      UniProtKB/TrEMBL
      A0A5F9ZHI5
      Related
      ENSP00000500380.1, ENST00000673136.1
      Conserved Domains (1) summary
      cl11961
      Location:5 → 403
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    8. NM_001369148.2 → NP_001356077.1  aldehyde dehydrogenase family 3 member A2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005722, AC115989
      UniProtKB/TrEMBL
      Q68D64
      Conserved Domains (1) summary
      cl11961
      Location:1 → 251
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      19648136..19677596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435622.1 → XP_047291578.1  aldehyde dehydrogenase family 3 member A2 isoform X1

      UniProtKB/TrEMBL
      A0A5F9ZHI5
      Related
      ENSP00000500777.1, ENST00000672567.1

    2. XM_024450651.2 → XP_024306419.1  aldehyde dehydrogenase family 3 member A2 isoform X2

      UniProtKB/TrEMBL
      Q68D64
      Conserved Domains (1) summary
      cl11961
      Location:1 → 251
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19596758..19626215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315478.1 → XP_054171453.1  aldehyde dehydrogenase family 3 member A2 isoform X1

      UniProtKB/TrEMBL
      A0A5F9ZHI5

    2. XM_054315479.1 → XP_054171454.1  aldehyde dehydrogenase family 3 member A2 isoform X2

      UniProtKB/TrEMBL
      Q68D64
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51648.1 GenPept UniProtKB/Swiss-Prot:P51648

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