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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALDH3A2 Gene

protein-coding GIFtS: 61
GCID: GC17P019551

aldehyde dehydrogenase 3 family, member A2

(Previous symbols: SLS, ALDH10)

Explore 22 diseases affiliated with
ALDH3A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 3 Family, Member A2¹ ²		Aldehyde Dehydrogenase Family 3 Member A2² ³
ALDH10¹ ² ³ ⁵		Microsomal Aldehyde Dehydrogenase² ³
FALDH¹ ² ³ ⁵		EC 1.2.1.3³ ⁸
SLS¹ ² ⁵		Fatty Aldehyde Dehydrogenase²
Aldehyde Dehydrogenase 10² ³		EC 1.2.1⁸

External Ids:	HGNC: 403¹	Entrez Gene: 224²	Ensembl: ENSG00000072210⁷	OMIM: 609523⁵	UniProtKB: P51648³

Export aliases for ALDH3A2 gene to outside databases

Previous GC identifers: GC17P019722 GC17P021188 GC17P019455 GC17P019714 GC17P019492 GC17P018931

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

Entrez Gene summary for ALDH3A2:

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)

UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648

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. Responsible for conversion of the sphingosine

1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ALDH3A2 gene promoter:
AP-1 ATF-2 c-Jun IRF-1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALDH3A2 promoter sequence

Search SABiosciences Chromatin IP Primers for ALDH3A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH3A2

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

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)
ALDH3A2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P019551: view genomic region (about GC identifiers)

Start:	19,551,449 bp from pter	End:	19,580,911 bp from pter
Size:	29,463 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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; Cytoplasmic side

Secondary accessions: Q6I9T3 Q93011 Q96J37

Alternative splicing: 2 isoforms: P51648-1 P51648-2

Explore the universe of human proteins at neXtProt for ALDH3A2: NX_P51648

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51648

4/15 DME Specific Peptides for ALDH3A2 (P51648) (see all 15)

EKPLALY

TLELGGK

VTLELGG

GMGAYHG

ALDH3A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000373.1 NP_001026976.1

ENSEMBL proteins:

ENSP00000395845 ENSP00000462964 ENSP00000176643 ENSP00000464153 ENSP00000461916

ENSP00000378942 ENSP00000466814 ENSP00000345774 ENSP00000463637 ENSP00000463128

ENSP00000458397 ENSP00000458942 ENSP00000464453 ENSP00000459977 ENSP00000462933

ENSP00000461235 ENSP00000463924

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	Uscn Proteins for ALDH3A2

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005777	peroxisome	IDA	17510064
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0005792	microsome	--	--

ALDH3A2 for ontologies About GeneDecksing

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

ALDH3A2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR016162 Ald_DH_N

IPR012394 Aldehyde_DH_NAD(P)

IPR016163 Ald_DH_C

IPR016161 Ald_DH/histidinol_DH

IPR015590 Aldehyde_DH_dom

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AL3A2_HUMAN, P51648

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. Responsible for conversion of the sphingosine

1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid

Catalytic activity: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH

Enzyme Numbers (IUBMB): EC 1.2.1.3¹ ² EC 1.2.1²

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004029	aldehyde dehydrogenase (NAD) activity	IMP	15110319
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	IEA	--
GO:0046577	long-chain-alcohol oxidase activity	IDA	18035827
GO:0050061	long-chain-aldehyde dehydrogenase activity	IDA	18035827
GO:0052814	medium-chain-aldehyde dehydrogenase activity	IDA	18035827

ALDH3A2 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Aldh3a2):

behavior/neurological

nervous system

vision/eye

ALDH3A2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ALDH3A2

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		hsa-miR-3200-5p hsa-miR-4254 hsa-miR-448 hsa-miR-222* hsa-miR-7-2* hsa-miR-4272 hsa-miR-1324 hsa-miR-659

		SwitchGear 3'UTR luciferase reporter plasmid: ALDH3A2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH3A2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

serotonin degradation

	serotonin degradation	1.00			noradrenaline and adrenaline degradation	0.40
	dopamine degradation	0.58

ethanol degradation II

	ethanol degradation II	1.00			ethanol degradation IV	0.57
	oxidative ethanol degradation III	0.57

Monoamines are oxidized to aldehydes by MAOA and MAOB, producing NH3 and H2O2

	tryptophan degradation X (mammalian, via tryptamine)	0.40			putrescine degradation III	0.20
	phenylalanine degradation IV (mammalian, via side chain)	0.29

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

Pentose and glucuronate interconversions

Pentose and glucuronate interconversions

1.00

Ascorbate and aldarate metabolism

0.62

Pathway sources
See GeneCards unified pathways
Show all pathways

5/12 BioSystems Pathways for ALDH3A2 (see all 12)

	serotonin degradation
	ethanol degradation IV
	noradrenaline and adrenaline degradation
	dopamine degradation
	putrescine degradation III

5/14 Kegg Pathways (Kegg details for ALDH3A2) (see all 14):

	Glycolysis / Gluconeogenesis
	Pentose and glucuronate interconversions
	Ascorbate and aldarate metabolism
	Fatty acid metabolism
	Valine, leucine and isoleucine degradation

ALDH3A2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ALDH3A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/74 Interacting proteins for ALDH3A2 (P51648³ ENSP00000345774⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 74)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GABARAPL1	Q9H0R8³	I2D: score=2
MAP1LC3A	Q9H492³	I2D: score=2
MAP3K10	Q02779³	I2D: score=2
MAX	P61244³	I2D: score=2
MME	P08473³	I2D: score=2

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006081	cellular aldehyde metabolic process	NAS	8528251
GO:0006714	sesquiterpenoid metabolic process	IDA	18035827
GO:0007417	central nervous system development	IMP	8528251
GO:0007422	peripheral nervous system development	IMP	8528251
GO:0008544	epidermis development	IMP	8528251

ALDH3A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALDH3A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALDH3A2

10/34 HMDB Compounds for ALDH3A2 (see all 34) About this table

Compound	Synonyms	CAS #	PubMed Ids
(S)-Methylmalonic acid semialdehyde	(S)-Methylmalonate semialdehyde (see all 3)	99043-16-0	--
2-Propyn-1-al		--	--
20-Oxo-leukotriene E4	20-oxo-LTE(,4) (see all 3)	--	--
20-oxo-leukotriene B4	20-carboxyleukotriene B4	--	--
3-Butyn-1-al		52844-23-2	--
3a,7a-Dihydroxy-5b-cholestan-26-al	3a,7a-Dihydroxy-5b-cholestan-26-al;3alpha,7alpha-dihydroxy-5beta-cholestan-27-al;5beta-cholestane-3alpha,7alpha-diol-27-al;5beta-cholestan-27-al-3alpha,7alpha-diol	--	--
4-Acetamidobutanoic acid	N-Acetyl-4-aminobutanoate (see all 11)	3025-96-5	--
4-Aminobutyraldehyde	4-amino-butanal (see all 5)	4390-05-0	--
4-Trimethylammoniobutanal	4-Trimethylammoniobutanal (see all 5)	64595-66-0	--
4-Trimethylammoniobutanoic acid	4-(N-Trimethylamino)butyrate (see all 8)	407-64-7	--

1 DrugBank Compound for ALDH3A2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423 6603890

10/15 Novoseek chemical compound relationships for ALDH3A2 gene (see all 15) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
octadecanal	93.7	4	1939650 (3), 1583866 (1)
phytenic acid	93.5	2	16435189 (2)
stearyl alcohol	83.5	2	1583866 (1), 1939650 (1)
phytanic acid	82.4	9	11306053 (1), 15110319 (1), 11341778 (1), 17510064 (1)
phytol	78.1	5	15110319 (2), 16435189 (2)
pristanic acid	71.8	2	9662422 (2)
propionaldehyde	59.9	1	1939650 (1)
nad+	52.6	2	16435189 (1), 19124283 (1)
leukotriene b4	52.3	8	10774987 (1), 11166796 (1), 11306053 (1), 16996289 (1)
fatty acid	40.4	16	17302612 (1), 15834613 (1), 17510064 (1), 16996289 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about ALDH3A2 / AL3A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ALDH3A2 gene (2 alternative transcripts):

NM_000382.2 NM_001031806.1

Unigene Cluster for ALDH3A2:

Aldehyde dehydrogenase 3 family, member A2

Hs.499886 [show with all ESTs]

Unigene Representative Sequence: U46689

18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):

ENST00000446398 ENST00000467473 ENST00000580550 ENST00000176643(uc002gwb.1)

ENST00000582991 ENST00000581518 ENST00000395575 ENST00000584332 ENST00000339618(uc002gwa.1)

ENST00000579855(uc002gwd.1) ENST00000578614 ENST00000472059(uc010cqr.1)

ENST00000579403 ENST00000476965 ENST00000571537 ENST00000578696 ENST00000574078

ENST00000571163

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDH3A2

Additional cDNA sequence:

AB208894.1 AK000858.1 AK025677.1 AK123877.1 AK292381.1 AK315096.1 BC002430.2 CR457422.1

CR749559.1 L47162.1 U46689.1

22 DOTS entries:

DT.100029567 DT.95297244 DT.95172382 DT.80101547 DT.101981203 DT.100797901 DT.95107048 DT.86849479

DT.121006099 DT.100665133 DT.95172383 DT.100797904 DT.100684882 DT.121006144 DT.86855488 DT.100676371

DT.95172379 DT.100694705 DT.121006095 DT.121006140 DT.95172381 DT.100830900

24/83 AceView cDNA sequences (see all 83):

BM834439 BM907389 BU542523 AU280530 BE408899 BP349491 BU166075 BQ942723

BQ639043 BG680118 AV702571 BI759428 BI761089 BM819268 BP355469 BQ431853

CD722389 AW772171 BX500854 CD652324 BQ686556 BE908387 AI670905 BE276105

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH3A2 (see all 12) About this scheme

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:

ECgene alternative splicing isoforms for ALDH3A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ALDH3A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCACAACCT

About this image

ALDH3A2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ALDH3A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALDH3A2

SOURCE GeneReport for Unigene cluster: Hs.499886

SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH3A2:

NFKB Signaling Targets in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH3A2 gene from 7/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ALDH3A2¹	aldehyde dehydrogenase 3 family, member A2	68.48(n) 72.54(a)		417615 NM_001006223.1 NP_001006223.1
lizard (Anolis carolinensis)	Reptilia	ALDH3A1⁶	--	65(a)	1 → many	GL344046.1(100277-107069)
African clawed frog (Xenopus laevis)	Amphibia	BQ384267.1²	--	75.5(n)		BQ384267.1
zebrafish (Danio rerio)	Actinopterygii	Dr.5533²	Danio rerio aldehyde dehydrogenase mRNA, complete cds	74.08(n)		AF254954.1
worm (Caenorhabditis elegans)	Secernentea	alh-5¹	Protein ALH-5	53.29(n) 49.88(a)		178680 NM_071144.4 NP_503545.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ALDH3H1¹	aldehyde dehydrogenase 3H1	50.61(n) 46.22(a)		841020 NM_179439.3 NP_849770.1
rice (Oryza sativa)	Liliopsida	Os11g0186200¹	hypothetical protein	51.85(n) 48.3(a)		4349966 NM_001072453.1 NP_001065921.1

ENSEMBL Gene Tree for ALDH3A2 (if available)
TreeFam Gene Tree for ALDH3A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ALDH3A2 gene

ALDH3A1² ALDH3B2²

4 SIMAP similar genes for ALDH3A2 using alignment to 13 protein entries: AL3A2_HUMAN (see all proteins):

DKFZp686E23276 ALDH3A1 ALDH3B2 ALDH3B1

ALDH3A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72547575^1,2	C	pathogenic	20285916(+)	`AGGCAA/GTGACG`	4	N S	mis¹		0	--	--	--	--
rs72547571^1,2	C	pathogenic	20287577(+)	`TAGCCC/TCAACA`	4	P S	mis¹		0	--	--	--	--
rs72547569^1,2	C	pathogenic	20293049(+)	`GTGAAC/GGTTTG`	4	N K	mis¹		0	--	--	--	--
rs72547564^1,2	C	pathogenic	20294368(+)	`TCCATA/GTTATA`	4	Y C	mis¹		0	--	--	--	--
rs77689406^1,2	F	--	18929262(+)	`CAAGGA/GGAGTT`	2	--	us2k¹		1		WA	118
rs113382244^1,2		--	18929576(+)	`TGTCCT/CGTTTG`	2	--	us2k¹		2		CSA WA	120
rs79930302^1,2	F	--	18929832(+)	`GAACAT/CGGTCA`	2	--	us2k¹		2		WA NA	238
rs114579037^1,2	C,F	--	18930130(+)	`GCCAGG/AGCCCC`	2	--	us2k¹		1		WA	118
rs112971072^1,2	C,F	--	18931530(+)	`CCTGAC/TGGCCA`	4	T M	mis¹		2		CSA NA	2908
rs9901895^1,2	C,F,H	--	18932240(+)	`tttctA/Tacaag`	2	--	int¹		4		NS EA	408

HapMap Linkage Disequilibrium report for ALDH3A2 (19551449 - 19580911 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ALDH3A2
3 CNVs: 88381 88379 3140
1 Indel: 42760
Human Gene Mutation Database (HGMD): ALDH3A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ALDH3A2 for disorders           About GeneDecksing

OMIM gene information: 609523
OMIM disorders: 270200
UniProtKB/Swiss-Prot: AL3A2_HUMAN, P51648

Defects in ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS) [MIM:270200]. SLS is an autosomal

recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or

tetraplegia and congenital ichthyosis (increased keratinization). Ichthyosis is usually evident at birth, 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

20/22 diseases for ALDH3A2 (see all 22): About MalaCards

sjogren-larsson syndrome acyl-coa dehydrogenase spastic diplegia ichthyosis

short stature intellectual disability refsum disease quadriplegia

spasticity macular dystrophy cerebral palsy maculopathy

nephrosis alcoholism hypospadias polydactyly

hepatitis b hepatitis pneumonia cerebritis

3 diseases from the University of Copenhagen DISEASES database for ALDH3A2:

Quadriplegia Intellectual disability Cerebral palsy

8 Novoseek disease relationships for ALDH3A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sjogren-larsson syndrome	98.9	36	11306053 (2), 11124298 (2), 9829906 (2), 9254849 (1) (see all 25)
congenital ichthyosis	95.2	7	8884139 (1), 9027499 (1), 16525484 (1), 19197545 (1) (see all 5)
ichthyosis	93.2	14	11073717 (1), 11306053 (1), 16476818 (1), 10577908 (1) (see all 9)
phakomatosis	88.7	19	10774987 (1), 11166796 (1), 8884139 (1), 17971613 (1) (see all 9)
spastic diplegia	88	3	15834613 (1), 19197545 (1)
mental retardation	81	18	11073717 (1), 11306053 (1), 16476818 (1), 8884139 (1) (see all 11)
tetraplegias	78.3	4	8884139 (1), 15834613 (1), 19197545 (1)
genetic disorder	24.6	2	11073717 (1), 9133646 (1)

Genetic Association Database (GAD): ALDH3A2
Human Genome Epidemiology (HuGE) Navigator: ALDH3A2 (6 documents)

Export disorders for ALDH3A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ALDH3A2 gene, integrated from 9 sources (see all 99):
(articles sorted by number of sources associating them with ALDH3A2)

Utopia: connect your pdf to the dynamic
world of online information

The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. (PubMed id 7894487)^{1, 3, 4} Pigg M....Wadelius C. (1994)
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). (PubMed id 9027499)^{1, 2, 9} 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, 2, 9} Rizzo W.B.... Lin Z. (1999)
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjoegren-Larsson syndrome. (PubMed id 9829906)^{1, 2, 9} Sillen A.... Wadelius C. (1998)
Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. (PubMed id 9070922)^{1, 2, 9} 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, 2, 9} Sillen A.... Wadelius C. (1997)
Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. (PubMed id 8528251)^{1, 2, 9} 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, 2, 9} Aoki N.... Ito M. (2000)
The Sjogren-Larsson syndrome gene encodes a hexadecena l dehydrogenase of the sphingosine 1-phosphate degradation pathway. (PubMed id 22633490)^{1, 2} Nakahara K....Kihara A. (2012)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 224	HGNC: 403	AceView: ALDH3A2.1	Ensembl:ENSG00000072210	euGenes: HUgn224
ECgene: ALDH3A2	Kegg: 224	H-InvDB: ALDH3A2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ALDH3A2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH3A2

Intellectual Property for ALDH3A2 gene
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Patent Information for ALDH3A2 gene:
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ALDH3A2 Gene

aldehyde dehydrogenase 3 family, member A2

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ALDH3A2 Gene

aldehyde dehydrogenase 3 family, member A2

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