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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALDH5A1 Gene

protein-coding GIFtS: 71
GCID: GC06P024444

aldehyde dehydrogenase 5 family, member A1

Explore 31 diseases affiliated with
ALDH5A1 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 5 Family, Member A1¹ ²		EC 1.2.1.24³ ⁸
SSADH¹ ² ³ ⁵		Mitochondrial Succinate Semialdehyde Dehydrogenase²
SSDH¹ ²		Succinate-Semialdehyde Dehydrogenase, Mitochondrial²
Aldehyde Dehydrogenase Family 5 Member A1² ³		EC 1.2.1⁸
NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase² ³

External Ids:	HGNC: 408¹	Entrez Gene: 7915²	Ensembl: ENSG00000112294⁷	OMIM: 610045⁵	UniProtKB: P51649³

Export aliases for ALDH5A1 gene to outside databases

Previous GC identifers: GC06P024552 GC06P024603

(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 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, Jul 2008)

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)

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ALDH5A1 gene promoter:
Max1 RFX1 p53 FOXO3 Cdc5 Meis-1b Cart-1 Meis-1a LyF-1 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALDH5A1 promoter sequence

Search SABiosciences Chromatin IP Primers for ALDH5A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH5A1

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

Entrez Gene cytogenetic band: 6p22 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)
ALDH5A1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P024444: 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

(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: SSDH_HUMAN, P51649 (See protein sequence)

Recommended Name: Succinate-semialdehyde dehydrogenase, mitochondrial precursor

Size: 535 amino acids; 57215 Da

Subunit: Homotetramer

Subcellular location: Mitochondrion

5 PDB 3D structures from and Proteopedia for ALDH5A1:

2W8N (3D)

2W8O (3D)

2W8P (3D)

2W8Q (3D)

2W8R (3D)

Secondary accessions: B2RD26 G5E949 Q8N3W6

Alternative splicing: 2 isoforms: P51649-1 P51649-2

Explore the universe of human proteins at neXtProt for ALDH5A1: NX_P51649

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51649

4/24 DME Specific Peptides for ALDH5A1 (P51649) (see all 24)

KQSGLGR

SGLGREG

ITPWNFP

GPLINEK

ALDH5A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001071.1 NP_733936.1

ENSEMBL proteins:

ENSP00000350191 ENSP00000417687 ENSP00000314649 ENSP00000438193

Reactome Protein details: P51649
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	Uscn Proteins for ALDH5A1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005739	mitochondrion	ISS	--
GO:0005759	mitochondrial matrix	TAS	--

ALDH5A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ALDH5A1

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

ALDH5A1 for domains About GeneDecksing

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

IPR016162 Ald_DH_N

IPR016163 Ald_DH_C

IPR010102 Succ_semiAld_DH

IPR016161 Ald_DH/histidinol_DH

IPR015590 Aldehyde_DH_dom

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

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

Function Summary:

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)

Genatlas biochemistry entry for ALDH5A1:

NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the

detoxification of xenobiotic carbonyl compounds

Enzyme Numbers (IUBMB): EC 1.2.1.24¹ ² EC 1.2.1²

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		hsa-miR-22 hsa-miR-548am hsa-miR-4272 hsa-miR-133b hsa-miR-1297 hsa-miR-133a hsa-miR-548x hsa-miR-26a

		SwitchGear 3'UTR luciferase reporter plasmid: ALDH5A1 3' UTR sequence

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH5A1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	ISS	7814412
GO:0009013	succinate-semialdehyde dehydrogenase [NAD(P)+] 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	IC	16199352

ALDH5A1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ALDH5A1:

Decreased POU5F1-GFP protein e

Decreased viability of wild-ty

Increased S DNA content

Animal Models:
Mouse knock-out Aldh5a1^tm1Kmg for ALDH5A1
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Aldh5a1):

behavior/neurological	growth/size	homeostasis/metabolism	mortality/aging	muscle
nervous system	renal/urinary system

ALDH5A1 for phenotypes About GeneDecksing

(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 - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Degradation of GABA

	Degradation of GABA	1.00			glutamate degradation III (via 4-aminobutyrate)	1.00
	4-aminobutyrate degradation I	1.00

GABA synthesis, release, reuptake and degradation

GABA synthesis, release, reuptake and degradation

1.00

Neurotransmitter Release Cycle

0.53

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Alanine, aspartate and glutamate metabolism

Alanine, aspartate and glutamate metabolism

1.00

Valproic Acid Pathway, Pharmacodynamics

Valproic Acid Pathway, Pharmacodynamics

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for ALDH5A1

	4-aminobutyrate degradation I
	glutamate degradation III (via 4-aminobutyrate)

5 Reactome Pathways for ALDH5A1

	Degradation of GABA
	Transmission across Chemical Synapses
	GABA synthesis, release, reuptake and degradation
	Neurotransmitter Release Cycle
	Neuronal System

2 PharmGKB Pathways for ALDH5A1

	Cyclophosphamide Pathway, Pharmacodynamics
	Valproic Acid Pathway, Pharmacodynamics

3 Kegg Pathways (Kegg details for ALDH5A1):

	Alanine, aspartate and glutamate metabolism
	Butanoate metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649

Pathway: Amino-acid degradation; 4-aminobutanoate degradation

ALDH5A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ALDH5A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/26 Interacting proteins for ALDH5A1 (P51649³ ENSP00000314649⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABAT	P80404³, ENSP00000268251⁴	I2D: score=2 STRING: ENSP00000268251
RAB5B	P61020³	I2D: score=4
ABHD1	Q96SE0³	I2D: score=1
DDX19A	Q9NUU7³	I2D: score=1
DLG4	P78352³	I2D: score=1

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed 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	--

ALDH5A1 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

ALDH5A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALDH5A1

5 HMDB Compounds for ALDH5A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
Succinic acid	1,2-Ethanedicarboxylate (see all 11)	110-15-6	--
Succinic acid semialdehyde	2-formylpropionic acid ethyl ester (see all 15)	692-29-5	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 DrugBank Compounds for ALDH5A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Succinic acid	1,2-Ethanedicarboxylic acid (see all 8)	110-15-6	target	inhibitor	17619587 16689938 15853764 17584458 11752352 16942602
Chlormerodrin	--	62-37-3	target	inhibitor	17139284 5692397 11752352 17016423
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/14 Novoseek chemical compound relationships for ALDH5A1 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
succinic semialdehyde	99	102	18846220 (3), 19164088 (3), 16504488 (2), 17457693 (2) (see all 63)
gamma-hydroxybutyrate	90.7	61	16647690 (4), 19164088 (3), 17457693 (2), 18846220 (2) (see all 18)
gaba	80.1	123	18846220 (3), 12208142 (3), 19667317 (3), 12743223 (3) (see all 38)
vigabatrin	73.6	4	8803774 (2), 14595661 (2)
succinate	63.9	14	19300440 (1), 18846220 (1), 15016427 (1), 19164088 (1) (see all 10)
alpha-ketoglutarate	49.7	4	15016427 (1), 16290145 (1), 16442322 (1), 10812195 (1)
glutamate	33.8	10	12740438 (1), 18846220 (1), 19576596 (1), 15016427 (1) (see all 9)
nad+	31.9	1	20174634 (1)
vitamin b6	27.6	1	15021235 (1)
nadh	24.5	1	18846220 (1)

Search CenterWatch for drugs/clinical trials and news about ALDH5A1 / SSDH

(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 ALDH5A1 gene (2 alternative transcripts):

NM_001080.3 NM_170740.1

Unigene Cluster for ALDH5A1:

Aldehyde dehydrogenase 5 family, member A1

Hs.371723 [show with all ESTs]

Unigene Representative Sequence: NM_170740

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000357578(uc003nef.3 uc003neg.3) ENST00000491546 ENST00000348925

ENST00000479394 ENST00000492697 ENST00000546278

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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):

Y11192 AA780576 AA782103 BM853301 BE858309 AA455344 AW135875 CA311310

BC034321 AW117511 AW131562 AJ427355 BU634074 AW849701 AA765566 C20982

AL044727 AI804612 BM667207 BQ187901 AA693393 R11674 H46643 CK823990

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for ALDH5A1

(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

ALDH5A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTATACTTTG

About this image

ALDH5A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Erythroid Progenitor Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ALDH5A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALDH5A1

SOURCE GeneReport for Unigene cluster: Hs.371723

UniProtKB/Swiss-Prot: SSDH_HUMAN, P51649

Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta

SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH5A1:

Amino Acid Metabolism II in human mouse rat

GABA & Glutamate in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

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In Situ
Assay Products:

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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 last universal common ancestor (LUCA).

Orthologs for ALDH5A1 gene from 9/38 species (see all 38) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ALDH5A1¹	aldehyde dehydrogenase 5 family, member A1	72.58(n) 78.43(a)		420818 XM_418909.3 XP_418909.2
lizard (Anolis carolinensis)	Reptilia	ALDH5A1⁶	--	77(a)	1 ↔ 1	4(54028355-54045922)
zebrafish (Danio rerio)	Actinopterygii	aldh5a1¹	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde more	67.6(n) 70.74(a)		565235 NM_001110468.1 NP_001103938.1
fruit fly (Drosophila melanogaster)	Insecta	CG4685³ Ssadh¹	succinate-semialdehyde dehydrogenase³ Succinic semialdehyde dehydrogenase¹	52(a)³ 55.12(n)¹ 53.32(a)¹		96E6³ 43092¹ NM_001014665.1¹ NP_001014665.1¹
worm (Caenorhabditis elegans)	Secernentea	alh-7¹	Protein ALH-7	53.8(n) 50.11(a)		174991 NM_064436.2 NP_496837.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	UGA2(YBR006W)⁴ UGA2¹	Succinate semialdehyde dehydrogenase involved in the more⁴ Uga2p¹	53.64(n)¹ 48.74(a)¹		2(247010-248503)⁴ 852291^{1, 4} NP_009560.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	ALDH5F1¹	succinate-semialdehyde dehydrogenase	58.63(n) 59.54(a)		844282 NM_106592.4 NP_178062.1
rice (Oryza sativa)	Liliopsida	Os.9838²	Oryza sativa (japonica cultivar-group) cDNA clone0 more	70.12(n)		AK060831.1
E. coli (Escherichia coli)	Gamma proteobacteria	gabD⁶ aldA⁶ (see all 3)	aldehyde dehydrogenase A, NAD-linked (see all 3)	55(a) 35(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	Chromosome(2789295-2790743) Chromosome(1486256-1487695)

ENSEMBL Gene Tree for ALDH5A1 (if available)
TreeFam Gene Tree for ALDH5A1 (if available)

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

(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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118203982^1,2	C	pathogenic	24454549(+)	`CAGTGG/AAATTT`	4	/* /W	stg¹		1		NA	4552
rs118203984^1,2	C	pathogenic	24477688(+)	`GACAGG/ATGGAA`	4	/D /G	mis¹		1		NA	4548
rs118203983^1,2	C	pathogenic	24477696(+)	`GAAAAC/TGACAC`	4	R *	stg¹		1		NA	4548
rs7772630^1,2	C,	--	24444302(+)	`GTCTCC/TAGCAG`	2	--	us2k¹		0	--	--	--	--
rs4646829^1,2	C,	--	24444454(+)	`GAAGCC/TGCGCG`	2	--	us2k¹		2		CSA WA	119
rs7752835^1,2	C,	--	24444469(+)	`TTAGGG/ACAAGG`	2	--	us2k¹ tfbs³		1		WA	118
rs4646830^1,2	C,A,	--	24444500(+)	`TGCAGC/GGAGAA`	2	--	us2k¹		5		NA CSA WA EA	361
rs12333186^1,2	C,	--	24445091(+)	`GGGGGC/TTTTAC`	2	--	int¹		2		WA	120
rs7754003^1,2	C,F,	--	24445159(+)	`AAAGTG/AGAAAG`	2	--	int¹		1		WA	118
rs12332800^1,2	C,F,	--	24445213(+)	`CCACTT/GTGAGC`	2	--	int¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for ALDH5A1 (24495080 - 24537435 bp)
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
Human Gene Mutation Database (HGMD): ALDH5A1

Locus Specific Mutation Databases (LSDB): ALDH5A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDH5A1

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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

ALDH5A1 for disorders           About GeneDecksing

OMIM gene information: 610045
OMIM 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

20/31 diseases for ALDH5A1 (see all 31): About MalaCards

2-hydroxyglutaric aciduria l-2-hydroxyglutaric aciduria d-2-hydroxyglutaric aciduria gaba-transaminase deficiency

succinic semialdehyde dehydrogenase deficiency juvenile absence epilepsy absence epilepsy idiopathic generalized epilepsy

generalized epilepsy status epilepticus learning disability paranoid schizophrenia

wagr syndrome metabolic disorders canavan disease intellectual disability

sleep disorder williams syndrome seizures down syndrome

2 diseases from the University of Copenhagen DISEASES database for ALDH5A1:

Succinic semialdehyde dehydrogenase deficiency Homocarnosinosis

9 Novoseek disease relationships for ALDH5A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
language delay	70.2	2	19300440 (1), 12891656 (1)
absence seizures	57.7	4	15582027 (2), 15134710 (1)
developmental delay	57.1	3	12891656 (1), 15021235 (1)
epilepsy, idiopathic generalized	49.6	4	16406321 (2), 15134710 (1)
epilepsy	44.7	9	16298354 (1), 17457693 (1), 19172412 (1), 18696252 (1) (see all 8)
mental retardation	44.6	7	15016427 (2), 16298354 (1), 9093300 (1), 16647690 (1) (see all 5)
metabolic disorder	38.6	4	16171286 (1), 9683595 (1), 14635103 (1)
genetic disorder	31.3	2	16203683 (1), 15037717 (1)
disability	0	3	19172412 (1), 14981524 (1), 15287248 (1)

Genatlas disease: ALDH5A1

4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia

GeneTests: ALDH5A1

Succinic Semialdehyde Dehydrogenase Deficiency

Genetic Association Database (GAD): ALDH5A1
Human Genome Epidemiology (HuGE) Navigator: ALDH5A1 (13 documents)

Export disorders for ALDH5A1 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)
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PubMed articles for ALDH5A1 gene, integrated from 9 sources (see all 109):
(articles sorted by number of sources associating them with ALDH5A1)

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

Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PubMed id 7814412)^{1, 2, 3, 9} Chambliss K.L.... Gibson K.M. (1995)
Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization. (PubMed id 9059628)^{1, 2, 3} Trettel F.... Gibson K.M. (1997)
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. (PubMed id 14635103)^{1, 2, 9} Akaboshi S.... Gibson K.M. (2003)
Redox-switch modulation of human SSADH by dynamic catalytic loop. (PubMed id 19300440)^{1, 2, 9} Kim Y.-G....Kim K.-J. (2009)
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. (PubMed id 12208142)^{1, 2, 9} Blasi P.... Malaspina P. (2002)
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. (PubMed id 11901270)^{1, 2, 9} Aoshima T.... Niwa T. (2002)
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (PubMed id 9683595)^{1, 2, 9} Chambliss K.L.... Gibson K.M. (1998)
A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability. (PubMed id 14981524)^{1, 4, 9} Plomin R....O'Donovan M.C. (2004)
An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PubMed id 15642443)^{1, 4, 9} Zhang B....Shen Y. (2005)
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. (PubMed id 11243727)^{1, 2, 9} Hogema B.M....Gibson K.M. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7915	HGNC: 408	AceView: ALDH5A1	Ensembl:ENSG00000112294	euGenes: HUgn7915
ECgene: ALDH5A1	Kegg: 7915	H-InvDB: ALDH5A1

(According to HUGE)
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(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 ALDH5A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH5A1

Intellectual Property for ALDH5A1 gene
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Patent Information for ALDH5A1 gene:
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ALDH5A1 Gene

aldehyde dehydrogenase 5 family, member A1

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ALDH5A1 Gene

aldehyde dehydrogenase 5 family, member A1

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