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ALDH5A1 Gene

protein-coding   GIFtS: 66

GC06P024552
aldehyde dehydrogenase 5 family, member A1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for ALDH5A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
aldehyde dehydrogenase 5 family, member A11 2     NAD(+)-dependent succinic semialdehyde dehydrogenase2 3
SSADH1 2 3 5     succinate-semialdehyde dehydrogenase, mitochondrial2
SSDH1 2     mitochondrial succinate semialdehyde dehydrogenase2
Aldehyde dehydrogenase family 5 member A12 3     EC 1.2.1.243

External Ids:    HGNC: 4081   Entrez Gene: 79152   Ensembl: ENSG000001122947   UniProtKB: P516493   

Search outside databases for aliases for ALDH5A1 gene

Previous GC identifer: GC06P024603

Summaries
for ALDH5A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for ALDH5A1:
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial
NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria,
is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the
defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two
transcript variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
Function: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)

Gene Wiki entry for ALDH5A1 (Aldehyde dehydrogenase 5 family, member A1)

Genomic Views
for ALDH5A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the ALDH5A1 gene upstream (promoter) region "":
HNF-4alpha2   COUP-TF1   C/EBPbeta   NF-E2   NF-E2 p45   STAT5A   ER-alpha   C/EBPalpha   FOXO4   AP-1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for ALDH5A1:  ""
MePH08588-2A   

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.2-p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22

ALDH5A1 Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P024552:  view genomic region     (about GC identifiers)

Start:
 24,495,080 bp from pter
End:
 24,537,435 bp from pter
Size:
 42,356 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  

Proteins
for ALDH5A1 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649 (See protein sequence)
Recommended Name: Succinate-semialdehyde dehydrogenase, mitochondrial precursor  
Size: 535 amino acids; 57215 Da
Subunit: Homotetramer
Subcellular location: Mitochondrion
PDB structures from "" and Proteopedia "" :
2W8N (3D) ""    2W8O (3D) ""    2W8P (3D) ""    2W8Q (3D) ""    2W8R (3D) ""    
Secondary accessions: B2RD26

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001071.1  NP_733936.1  


    ENSEMBL proteins: 
    ENSP00000350191 ENSP00000314649 ENSP00000417687 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for ALDH5A1 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Protein for ALDH5A1  ""
    Novus Biologicals Lysate for ALDH5A1
    ""Browse Sino Biological Recombinant Proteins  ""

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IDA16199352
    GO:0005739 mitochondrion ISS--
    About this table

    "" ALDH5A1 for ontologies           About GeneDecksing



    Antibodies for ALDH5A1: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for ALDH5A1
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (ALDH5A1)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for ALDH5A1
    ""Browse antibodies at Epitomics

    Assays for ALDH5A1: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for ALDH5A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

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    "" ALDH5A1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR010102 Succ_semiAld_DH
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry P51649

    ProtoNet protein and cluster: P51649

    1 Blocks protein family: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Similarity: Belongs to the aldehyde dehydrogenase family

    Gene Function
    for ALDH5A1 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (ALDH5A1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ALDH5A1
    Origene shRNA RFP (see all 2): ALDH5A1
    Origene basic RS shRNA (see all 2): ALDH5A1

    ""Applied Biosystems Silencer® siRNAs for ALDH5A1
    ""Sigma-Aldrich siRNA Panels and siRNA for ALDH5A1
    Sigma-Aldrich shRNA for ALDH5A1
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ALDH5A1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ALDH5A1
    Origene untagged cDNA clones in CMV expression vector (see all 3): ALDH5A1
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Function: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
    Catalytic activity: Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH
    Enzyme regulation: Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2)
    Enzyme Number (IUBMB): EC 1.2.1.24 

    Genatlas biochemistry entry for ALDH5A1:
    NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the
    detoxification of xenobiotic carbonyl compounds

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004777 succinate-semialdehyde dehydrogenase activity ISS7814412
    GO:0016491 oxidoreductase activity IEA--
    GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor ----
    GO:0031406 carboxylic acid binding ----
    GO:0042803 protein homodimerization activity IC16199352
    About this table

    "" ALDH5A1 for ontologies           About GeneDecksing

    Animal Models: 7 MGI mutant phenotypes (inferred from 2 alleles"") (MGI details for Aldh5a1):

    behavior/neurologicalgrowth/sizehomeostasis/metabolismlethality-postnatalmuscle
    nervous systemrenal/urinary system

    "" ALDH5A1 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for ALDH5A1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" ALDH5A1 for pathways           About GeneDecksing

    5/19 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  ALDH5A1  (Your Favorite Gene powered by Ingenuity) (see all 19 )
      ""  Ascorbate and Aldarate Metabolism
    Histidine Metabolism
    Glycolysis/Gluconeogenesis
    Propanoate Metabolism
    Valine, Leucine and Isoleucine Degradation

    3 "" Kegg Pathways  (Kegg details for ALDH5A1):
      ""  hsa00250 Alanine, aspartate and glutamate metabolism
    hsa00650 Butanoate metabolism
    hsa01100 Metabolic pathways

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Pathway: Amino-acid degradation; 4-aminobutanoate degradation

    "" Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH5A1

    5/8 Interacting proteins for ALDH5A1 (ENSP000003146493) via UniProtKB, MINT, and/or STRING (see all 8 ) ""

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCENSP000003479003STRING: ENSP00000347900
    SDHBENSP000003646493STRING: ENSP00000364649
    SDHDENSP000003646993STRING: ENSP00000364699
    SUCLA2ENSP000003679233STRING: ENSP00000367923
    SUCLG1ENSP000002957833STRING: ENSP00000295783
    About this table

    5/18 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 18 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006 glucose metabolic process ISS--
    GO:0006083 acetate metabolic process ISS--
    GO:0006105 succinate metabolic process ISS--
    GO:0006536 glutamate metabolic process ISS--
    GO:0006541 glutamine metabolic process ISS--
    About this table

    "" ALDH5A1 for ontologies           About GeneDecksing


    Drugs & Compounds
    for ALDH5A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" ALDH5A1 for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for ALDH5A1
    10/91 ""Novoseek chemical compound relationships for ALDH5A1 gene (see all 91 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinic semialdehyde 100.00 206 6643116 (5), 3701337 (5), 18846220 (4), 2596851 (3) (see all 100)
    gamma-hydroxybutyrate 100.00 65 16647690 (5), 12065715 (5), 17854388 (4), 19296210 (3) (see all 32)
    gaba 100.00 128 17854388 (7), 12891658 (5), 7584821 (3), 6452931 (3) (see all 86)
    vigabatrin 12.75 9 12065715 (4), 14595661 (3), 8803774 (2)
    succinic acid 10.25 6 7584821 (1), 20174634 (1), 20060383 (1), 19300440 (1) (see all 6)
    succinate 9.57 10 17854388 (2), 6643116 (1), 19164088 (1), 18846220 (1) (see all 9)
    4-hydroxybenzaldehyde 9.32 4 16290145 (2), 6643116 (1), 6452931 (1)
    glutamate 7.90 21 17854388 (3), 8920949 (1), 7584821 (1), 6707630 (1) (see all 19)
    alpha-ketoglutarate 7.61 7 19181799 (1), 16442322 (1), 16290145 (1), 15016427 (1) (see all 7)
    gastrodine 7.14 3 10230516 (2), 12548709 (1)
    About this table


    Transcripts
    for ALDH5A1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (ALDH5A1)
    ""Applied Biosystems Silencer® siRNAs:  NM_001080  NM_170740  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): ALDH5A1
    Origene shRNA RFP (see all 2): ALDH5A1
    Origene basic RS shRNA (see all 2): ALDH5A1

    ""Sigma-Aldrich siRNA Panels and siRNA for ALDH5A1
    Sigma-Aldrich shRNA for ALDH5A1
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""5 SABiosciences microRNAs that regulate ALDH5A1: ""
    hsa-miR-133a hsa-miR-186 hsa-miR-26a hsa-miR-133b hsa-miR-26b
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001080  NM_170740  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): ALDH5A1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ALDH5A1
    Origene untagged cDNA clones in CMV expression vector (see all 3): ALDH5A1
    Primers:"" Origene genome-wide validated SYBR primer pairs: ALDH5A1
    ""SABiosciences RT2 qPCR Primer Assay for ALDH5A1: PPH07317A ""

    REFSEQ mRNAs for ALDH5A1 gene (2 alternative transcripts): 

    NM_001080.3  NM_170740.1  

    Additional cDNA sequence: 

    AJ427353.1 AJ427354.2 AJ427355.2 AK025722.1 AK290800.1 AK294699.1 AK314357.1 AK315380.1 
    BC034321.1 L34820.1 Y11192.1 

    5 DOTS entries:

    DT.413838  DT.92432302  DT.405880  DT.97859758  DT.91974726 

    24/197 AceView cDNA sequences (see all 197 ):

    CA311310 AA782103 AA455344 BM853301 AJ427354 AA625256 AI423720 AI096495 
    NM_170740 AK025722 AA345651 NM_001080 AI989680 BU857231 AI241374 BG260791 
    BG569889 T30846 AI879031 L34820 AI028465 AA486410 AJ427355 Y11192 

    "" highest scoring ESTs for ALDH5A1:

    AA135160 AA166709 AA169518 AA262077 AA278493 AA455344 AA455381 AA486410 AA602143 AA625256 

    Unigene Cluster for ALDH5A1:

    Aldehyde dehydrogenase 5 family, member A1
    Hs.371723  [show with all ESTs]
    Unigene Representative Sequence: NM_170740


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH5A1

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
    SP1:                                                  -                                       
    SP2:                                -                 -                                       
    SP3:                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for ALDH5A1

    5 Ensembl transcripts including schematic representations:
    ENST00000357578  ENST00000492697  ENST00000479394  ENST00000348925  ENST00000491546  

    Expression
    for ALDH5A1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    ALDH5A1 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for ALDH5A1

    1""  / 2""  / 3""

    5 probe-sets matching ALDH5A1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    41790_at2, 3 U95-A 1 0.94 1.00 1.00 1.00 AL031230 0.20 1.00 0.72 1
    203609_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001080 0.60 1.00 0.82 1
    203608_at2, 3 U133-A 1 0.91 1.00 -- -- AL031230 0.20 1.00 0.72 1
    203609_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    203608_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    "" ALDH5A1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTATACTTTG

    SOURCE GeneReport for Unigene cluster: Hs.371723

    Expression variation in blood from EXPOLDB for ALDH5A1

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649
    Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta

    Primers:"" Origene genome-wide validated SYBR primer pairs: ALDH5A1 ""
    ""SABiosciences RT2 qPCR Primer Assay for ALDH5A1: PPH07317A ""

    Orthologs
    for ALDH5A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for ALDH5A1 gene from 5/22 species (see all 22 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 ALDH5A11   -- aldehyde dehydrogenase 5 family, member A1 87.69(n)
    91.37(a)    		 488246  XM_545368.2  XP_545368.2 
    chimpanzee
    (Pan troglodytes)    		 ALDH5A11   -- aldehyde dehydrogenase 5 family, member A1 99.56(n)
    99.62(a)    		 449515  NM_001008991.1  NP_001008991.1 
    cow
    (Bos taurus)    		 ALDH5A11   -- aldehyde dehydrogenase 5 family, member A1 86.12(n)
    85.93(a)    		 532724  XM_611883.3  XP_611883.2 
    rat
    (Rattus norvegicus)    		 Aldh5a11   -- aldehyde dehydrogenase 5 family, member A1 81.96(n)
    86.04(a)    		 291133  XM_214478.4  XP_214478.4 
    mouse
    (Mus musculus)    		 Aldh5a11, 5 135
    		 aldhehyde dehydrogenase family 5, subfamily A11, 5 81.96(n)1
    86.23(a)1    		 2145791  NM_172532.21  NP_766120.11 
     AA0143535  AA6723525  (see all 17)
    About this table        Species with no ortholog for ALDH5A1

    ENSEMBL Gene Tree for ALDH5A1

    Paralogs
    for ALDH5A1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      User Feedback    		  --

    Genomic Variants
    for ALDH5A1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback
    10/376 NCBI SNPs in ALDH5A1 are shown (see all 376 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 117)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs46468281,2
    		C,F,A,H24444374(+) CAGTCC/TGCAGG 2 -- ng51""2Minor allele frequency- T:0.32EA NA 90""
    ""
    rs117592841,2
    		C,F,A,H24443967(+) TGGACT/GAAGGT 2 -- ng51""13Minor allele frequency- G:0.26NS EA WA NA 1162""
    ""
    rs94610361,2
    		C,F,A,H24534754(+) TGGGCG/TTGTGT 2 -- ut31""4Minor allele frequency- T:0.01EA NS 478""
    ""
    rs27446031,2
    		C,F,A24487280(+) TGAACA/GGTCAG 2 -- ng31""14Minor allele frequency- G:0.25NS EA NA WA 1124""
    ""
    rs10548991,2
    		C,F,A24534193(+) CCTGGC/ATCCCC 2 -- ut31 ese3""13Minor allele frequency- A:0.26MN NS EA WA 2810""
    --
    rs27601181,2
    		C,F,A24503590(-) GGTGTG/AGATAA 4 /H /Y ref1 mis1 ese3""14Minor allele frequency- A:0.28MN NS EA NA WA 1238""
    ""
    rs27445751,2
    		C,F,A24444425(+) CTCCCC/GCGGGA 2 -- ng51 tfbs3""3Minor allele frequency- G:0.28EA WA NA 140""
    --
    rs27446021,2
    		C,A,H24535780(+) CTCACA/GCCTGT 2 -- ut31 ese3""0--------
    ""
    rs27445741,2
    		C,F,A24443329(+) TGCAAT/CAAAAT 2 -- ng51 tfbs3""13Minor allele frequency- C:0.12NS EA NA WA 952""
    ""
    rs121902141,2
    		C,F24535208(+) ACGCAC/AAAAAA 2 -- ut31 ese3""14Minor allele frequency- A:0.03NS EA NA WA 1296""
    About this table

    HapMap Linkage Disequilibrium images for ALDH5A1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 4 variations for ALDH5A1
         3 CNVs: 99466 47969 93550
         1 Indel: 81276

    Disorders & Mutations
    for ALDH5A1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

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    "" ALDH5A1 for disorders           About GeneDecksing

    OMIM: 610045   disorders: 271980  

    UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649

  • Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency)
    • [MIM:271980]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to
    accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia
    and by mildly retarded psychomotor development

    10/45 ""Novoseek disease relationships for ALDH5A1 gene (see all 45 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ssadh deficiency 100.00 160 9093300 (7), 16442322 (6), 20041601 (5), 15134710 (5) (see all 64)
    aciduria 19.39 9 16442322 (2), 9683595 (1), 9093300 (1), 19040727 (1) (see all 8)
    generalized convulsive seizure 16.03 6 15582027 (2), 15262267 (2), 16601881 (1), 16240371 (1)
    absence seizure 11.29 8 15582027 (5), 16601881 (1), 15262267 (1), 15134710 (1)
    canavan disease 8.06 4 15016427 (4)
    mental retardation 6.14 8 15016427 (3), 9093300 (1), 16647690 (1), 16545979 (1) (see all 6)
    idiopathic generalized epilepsy 5.88 4 16406321 (3), 15134710 (1)
    epilepticus; status 5.44 6 16240371 (2), 16601881 (1), 16203683 (1), 15582027 (1) (see all 5)
    wagr syndrome 4.66 2 16545979 (2)
    epilepsies 4.06 13 17457693 (2), 6477639 (1), 19172412 (1), 19040727 (1) (see all 12)
    About this table

    Genatlas disease: ALDH5A1
    4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia

    GeneTests: ALDH5A1
    Succinic Semialdehyde Dehydrogenase Deficiency

    Locus Specific Mutation Databases: ALDH5A1
    Human Gene Mutation Database: ALDH5A1
    Genetic Association Database: ALDH5A1
    Human Genome Epidemiology Navigator: ALDH5A1 (9 documents)

    Medical News
    for ALDH5A1 gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for ALDH5A1 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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      User Feedback    		10/101 PubMed articles for ALDH5A1 gene (see all 101 ):

    Search for ALDH5A1 gene

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    Genome Databases showing ALDH5A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7915 HGNC: 408 AceView: ALDH5A1 Ensembl:ENSG00000112294 euGenes: HUgn7915
    ECgene: ALDH5A1 Kegg: 7915 H-InvDB: ALDH5A1

    Other Databases showing ALDH5A1 gene

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    Specialized Databases showing ALDH5A1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH5A1

    Intellectual Property
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      User Feedback    		Patent Information for ALDH5A1 gene: ""
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