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Aliases & Descriptions for ALDH3A2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ALDH10 2 , 3 , 5 DKFZp686E23276 2 EC 1.2.1.3 3 FALDH 1 , 2 , 3 , 5 FLJ20851 2 OTTHUMP00000065801 2 SLS 2 , 5
Descriptions Aldehyde dehydrogenase 10 2 , 3 Aldehyde dehydrogenase family 3 member A2 3 Microsomal aldehyde dehydrogenase 3 aldehyde dehydrogenase 3 family, member A2 2 aldehyde dehydrogenase 3A2 2 fatty aldehyde dehydrogenase 2
Search outside databases for aliases for ALDH3A2 genePrevious GC identifers: GC17P019722 GC17P021188 GC17P019455 GC17P019714
Summaries for ALDH3A2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ALDH3A2 : Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydesgenerated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidationof long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larssonsyndrome. Alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648 Function : Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on avariety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length
Genomic Location for ALDH3A2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ALDH3A2 gene Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2 ALDH3A2 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 17 GeneLoc Exon Structure
GeneLoc location for GC17P019492:
(about GC identifiers )
Start:
19,492,641 bp from pter
End:
19,521,501 bp from pter
Size:
28,861 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000017.9 NT_010718.15 Proteins for ALDH3A2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648 (See
protein sequence )Recommended Name: Fatty aldehyde dehydrogenase Size : 485 amino acids; 54848 Da
Subcellular location : Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmicside
Secondary accessions : Q93011 Q96J37Alternative splicing : 2 isoforms : P51648-1 P51648-2
REFSEQ proteins (2 alternative transcripts):
NP_000373.1 NP_001026976.1 ENSEMBL proteins: ENSP00000385699 ENSP00000378942 ENSP00000345774 ENSP00000176643 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ALDH3A2: Assays for ALDH3A2:
Protein
Domains/ Families for ALDH3A2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P51648 ProtoNet protein and cluster: P51648
UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648 Similarity : Belongs to the aldehyde dehydrogenase family
Gene Function for ALDH3A2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001031806 Applied Biosystems Silencer ® siRNAs for ALDH3A2 Sigma-Aldrich siRNA and siRNA Panels for ALDH3A2 Sigma-Aldrich shRNA for ALDH3A2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000382                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000382                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000382  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001031806 UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648 Function : Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on avariety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length Catalytic activity : An aldehyde + NAD(+) + H(2)O = an acid + NADHEnzyme Number (IUBMB): EC 1.2.1.3
4 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004028 3-chloroallyl aldehyde dehydrogenase activity
TAS 8528251 GO:0004029 aldehyde dehydrogenase (NAD) activity
IEA -- GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity
IEA -- GO:0016491 oxidoreductase activity
IEA --
About this table
Pathways & Interactions for ALDH3A2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/18 Sigma-Aldrich "Your Favorite Gene" Pathways for ALDH3A2 (Your Favorite Gene powered by Ingenuity) (see all 18
) 5/84 Interacting proteins for ALDH3A2 (ENSP00000345774 3 ) via UniProtKB, MINT, and/or STRING (see all 84
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
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Drugs & Compounds for ALDH3A2 (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 )
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Browse Tocris compounds for ALDH3A2 10/12 Novoseek chemical compound relationships for ALDH3A2 gene (see all 12
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
octadecanal
93.77
4
1939650 (3), 1583866 (1)
phytenic acid
93.54
2
16435189 (2)
phytanic acid
82.79
9
11306053 (1), 15110319 (1), 11341778 (1), 17510064 (1)
phytol
79.03
5
15110319 (2), 16435189 (2)
pristanic acid
72.23
2
9662422 (2)
propionaldehyde
60.70
1
1939650 (1)
nad+
53.60
2
16435189 (1), 19124283 (1)
leukotriene b4
52.82
8
10774987 (1), 11166796 (1), 11306053 (1), 16996289 (1)
fatty acid
41.66
16
17302612 (1), 15834613 (1), 17510064 (1), 16996289 (1) (see all 5 )
lipid
32.08
12
18174527 (2), 15931689 (1), 15241804 (1), 15452860 (1)
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Transcripts for ALDH3A2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001031806 Sigma-Aldrich siRNA and siRNA Panels for ALDH3A2 Sigma-Aldrich shRNA for ALDH3A2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000382 NM_001031806
REFSEQ mRNAs for ALDH3A2 gene (2 alternative transcripts): NM_000382.2 NM_001031806.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000382 NM_001031806
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000382                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000382                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000382  
Additional cDNA sequence: AB208894.1 AK000858.1 AK025677.1 AK123877.1 AK292381.1 AK315096.1 BC002430.2 CR457422.1 CR591336.1 CR749559.1 L47162.1 U46689.1
22 DOTS entries : DT.100029567 DT.95297244 DT.95172382 DT.101981203 DT.80101547 DT.100797901 DT.95107048 DT.86849479 DT.121006099 DT.100665133 DT.95172383 DT.100797904 DT.100676371 DT.100684882 DT.121006144 DT.86855488 DT.95172379 DT.100694705 DT.121006095 DT.121006140 DT.95172381 DT.100830900
24/83 AceView cDNA sequences (see all 83
):BU542523 CD722389 BQ942723 BQ431853 BM819268 BI759428 BP355469 BI761089 AV702571 BQ639043 AU280530 BP349491 BE408899 BM834439 BG680118 BU166075 BM907389 BM834982 AV653292 BG574230 BG035908 AV704609 BI546174 BG031358
highest scoring ESTs for ALDH3A2 :U46689 AA004841 AA005035 AA018851 AA019244 AA019245 AA019525 AA029447 AA029512 AA164606
Unigene Cluster for ALDH3A2: Aldehyde dehydrogenase 3 family, member A2 Hs.499886 [show with all ESTs ] Unigene Representative Sequence: U46689 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A2 (see all 12
) 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 :     -   -   -   -   -   -                                      
ExUns: 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d SP1 :     -   -   -           SP2 :     -               SP3 :                   SP4 :                   SP5 :                  
About this scheme ECgene alternative splicing isoforms for ALDH3A2 4 Ensembl transcripts including schematic representations : ENST00000404114
ENST00000395575
ENST00000339618
ENST00000176643
Expression for ALDH3A2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 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
)
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ALDH3A2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ALDH3A2 1 / 2 / 3
7 probe-sets matching ALDH3A2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTCACAACCTSOURCE GeneReport for Unigene cluster: Hs.499886 Expression variation in blood from EXPOLDB for ALDH3A2
Orthologs for ALDH3A2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ALDH3A2 gene from 5/17 species (see all 17
)
About this table Species with no ortholog for ALDH3A2 ENSEMBL Gene Tree for ALDH3A2 Paralogs for ALDH3A2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ALDH3A2 gene ALDH3A1 2 ALDH3B1 2 ALDH3B2 2
SNPs/Variants for ALDH3A2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ALDH3A2 (up to first 250kb)
Disorders & Mutations for ALDH3A2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 609523 disorders : 270200 UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648
Defects in ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS) [MIM:270200]. SLS isan autosomal recessive neurocutaneous disorder characterized by a combination of severe mentalretardation, spastic di- or tetraplegia and congenital ichthyosis (increased keratinization).Ichthyosis is usually evident at birth, neurologic symptoms appear in the first or second year oflife. Most patients have an IQ of less than 60. Additional clinical features include glisteningwhite spots on the retina, seizures, short stature and speech defects
8 Novoseek disease relationships for ALDH3A2 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
sjogren-larsson syndrome
98.93
36
11306053 (2), 11124298 (2), 9829906 (2), 9254849 (1) (see all 25 )
congenital ichthyosis
95.41
7
8884139 (1), 9027499 (1), 16525484 (1), 19197545 (1) (see all 5 )
ichthyosis
93.27
14
11073717 (1), 11306053 (1), 16476818 (1), 10577908 (1) (see all 9 )
phakomatosis
89.06
19
10774987 (1), 11166796 (1), 8884139 (1), 17971613 (1) (see all 9 )
spastic diplegia
88.55
3
15834613 (1), 19197545 (1)
mental retardation
81.17
18
11073717 (1), 11306053 (1), 16476818 (1), 8884139 (1) (see all 11 )
tetraplegias
78.91
4
8884139 (1), 15834613 (1), 19197545 (1)
genetic disorder
26.00
2
11073717 (1), 9133646 (1)
About this table Human Gene Mutation Database : ALDH3A2 Genetic Association Database: ALDH3A2 Human Genome Epidemiology Navigator: ALDH3A2 (2 documents)
Medical News for ALDH3A2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ALDH3A2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/74 PubMed articles for ALDH3A2 gene (see all 74
): The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. (PubMed id 7894487) 2, 3, 6 Pigg M....Wadelius C. (1994) Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). (PubMed id 9027499) 1, 3, 4 Rogers G.R.... Compton J.G. (1997) The molecular basis of Sjoegren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. (PubMed id 10577908) 1, 3, 4 Rizzo W.B.... Lin Z. (1999) Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome. (PubMed id 9829906) 1, 3, 4 Sillen A.... Wadelius C. (1998) Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. (PubMed id 9070922) 1, 3, 4 Chang C. and Yoshida A. (1997) A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. (PubMed id 9254849) 1, 3, 4 Sillen A.... Wadelius C. (1997) Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. (PubMed id 8528251) 1, 3, 4 de Laurenzi V.... Rizzo W.B. (1996) A novel point mutation of the FALDH gene in a Japanese family with Sjoegren-Larsson syndrome. (PubMed id 10792573) 1, 3, 4 Aoki N.... Ito M. (2000) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Sjogren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). (PubMed id 15931689) 1, 3 Rizzo W.B. and Carney G. (2005)
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Genome Databases showing ALDH3A2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ALDH3A2
(According to HUGE )
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Specialized Databases showing ALDH3A2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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GeneReviews http://www.genetests.org/query?gene=ALDH3A2
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-- Services for ALDH3A2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ALDH3A2:
Search Tocris compounds for ALDH3A2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009