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ALDH Gene Record


Summary for ALDH5A1
Trivial Names & Synonyms
Database Accession ID's
Molecular Features
Polymorphisms
Substrates and Kinetic Values
Tissue Expression & Cellular Localization
Reference List

ALDH5A1

Summary for ALDH5A1:

ALDH5A1 encodes, a mitochondrial enzyme (~ 58.6 kDa subunits) often referred to as succinic semialdehyde dehydrogenase involved in the catabolism of the neurotransmitter gamma-aminobutyric acid (GABA) and is highly expressed in the brain.

Several mutations have been identified in both coding and non-coding segments of the ALDH5A1 leading to a functional deficiency in the gene product. This rare autosomal recessive metabolic disorder of 4-aminobutyric acid degradation is characterized by the accumulation of GABA and 4-hydroxybutryic acid leading to a variety of moderate to severe phenotypic neurological disorders including mental retardation, ataxia and seizures (9093300) .

ALDH5A1 knockout mice are characterized biochemically by elevated GABA and 4-hydroxybutyric acid in urine, liver and brain and clinically by ataxia, poor weight gain, myoclonic and convulsive seizures and convulsive status epilepticus similar to that seen in humans with known ALDH5A1 deficiency (12891658) , (11544478) .

 
 

Trivial Names and Synonyms for ALDH5A1:

6330403E24Rik,    Ahd1 (Ahd-1),    D630032B01Rik,    Mitochondrial succinate semialdehyde dehydrogenase,    NAD(+)-dependent succinic semialdehyde dehydrogenase,    SSADH,    SSDH,    Ssdh1
 
 

Database Accession ID's for ALDH5A1:

Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Homo sapiens
(Human)
Institute Database Accession No.
NCBICCDS4556.1
NCBIEntrez Gene7915
NCBIGenBankNC_000006
NCBIOMIM271980
NCBIUniGene371723
HUGOHGNC408
EBI, WTSIEnsembl - GeneViewENSG00000112294
Institute Database Accession No.
NCBIGenBankNM_001080, NM_170740
EBI, WTSIEnsembl - TransViewENST00000348925, ENST00000357578
Institute Database Accession No.
NCBIAceViewALDH5A1.bApr07, ALDH5A1.aApr07, ALDH5A1.cApr07
NCBIEntrez ProteinNP_001071, NP_733936
EBI, WTSIEnsembl - ProtViewENSP00000314649, ENSP00000350191
EBI, SIB, PIRUniProtP51649
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Mus musculus
(House mouse)
Institute Database Accession No.
NCBIEntrez Gene214579
NCBIGenBankNC_000079
NCBIUniGene393311, 207044
JLMGI2441982
EBI, WTSIEnsembl - GeneViewENSMUSG00000035936
Institute Database Accession No.
NCBIGenBankNM_172532
EBI, WTSIEnsembl - TransViewENSMUST00000037615
Institute Database Accession No.
NCBIEntrez ProteinNP_766120
EBI, WTSIEnsembl - ProtViewENSMUSP00000040591
EBI, SIB, PIRUniProtQ5SZW1, Q8BWF0
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Rattus norvegicus
(Norway rat)
Institute Database Accession No.
NCBIEntrez Gene291133
NCBIGenBankNC_005116
NCBIUniGene10070
MCWRGD621422
EBI, WTSIEnsembl - GeneViewENSRNOG00000023538
Institute Database Accession No.
NCBIGenBankXM_214478
EBI, WTSIEnsembl - TransViewENSRNOT00000031384, ENSRNOT00000050919
Institute Database Accession No.
NCBIEntrez ProteinXP_214478
EBI, WTSIEnsembl - ProtViewENSRNOP00000035601, ENSRNOP00000044002
EBI, SIB, PIRUniProtP51650
 
 
 

Molecular Features for ALDH5A1:

Species  
Homo sapiens
(Human)
Chromosome Locus : 6 p 22.2-3 (+ strand)
 

 
ALDH5A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH5A1_v1 :   10 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 1
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000357578 5131 ENSP00000350191 535 57215 8.62 Click Here for Graphical and Tabular Details

NM_001080 5131 NP_001071 535 57215 8.62 Click Here for Graphical and Tabular Details

ALDH5A1.bApr07 5136 ALDH5A1.bApr07 535 57215 8.62 Click Here for Graphical and Tabular Details

 
 
ALDH5A1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH5A1_v2 :   11 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 2
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000348925 5170 ENSP00000314649 548 58654 8.41 Click Here for Graphical and Tabular Details

NM_170740 5170 NP_733936 548 58654 8.41 Click Here for Graphical and Tabular Details

ALDH5A1.aApr07 5377 ALDH5A1.aApr07 548 58654 8.41 Click Here for Graphical and Tabular Details

 
 
ALDH5A1_v3     (Alternative Splice Variant 3) Number of Exons for ALDH5A1_v3 :   4 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 3
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 3
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH5A1.cApr07 1034 ALDH5A1.cApr07 172 18594 4.84 Click Here for Graphical and Tabular Details

 
Species  
Mus musculus
(House mouse)
Chromosome Locus : 13 3.1 A (- strand)
 

 
ALDH5A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH5A1_v1 :   10 Click Here for Mus musculus Transcript Sequences for Alternative Splice Variant 1
Click Here for Mus musculus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSMUST00000037615 1690 ENSMUSP00000040591 523 55969 8.38 Click Here for Graphical and Tabular Details

NM_172532 2196 NP_766120 523 55969 8.53 Click Here for Graphical and Tabular Details

Insertions : 2 base insertion(s) identified

 
Species  
Rattus norvegicus
(Norway rat)
Chromosome Locus : 17 p 11 (+ strand)
 

 
ALDH5A1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH5A1_v1 :   10 Click Here for Rattus norvegicus Transcript Sequences for Alternative Splice Variant 1
Click Here for Rattus norvegicus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSRNOT00000031384 2109 ENSRNOP00000035601 614 66163 8.93 Click Here for Graphical and Tabular Details

XM_214478 1965 XP_214478 523 56146 8.35 Click Here for Graphical and Tabular Details

 
 
ALDH5A1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH5A1_v2 :   9 Click Here for Rattus norvegicus Transcript Sequences for Alternative Splice Variant 2
Click Here for Rattus norvegicus Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSRNOT00000050919 1383 ENSRNOP00000044002 326 34455 6.39 Click Here for Graphical and Tabular Details

Transcript : The coding sequence (CDS) for this transcript likely begins upstream to this transcript sequence as the current CDS begins for the transcript does not begin until Exon 3. Possibly an alternative initiation codon to ATG.

Peptide : The transcript sequence is likely incomplete for this peptide product at the 5 prime end as it lacks an initialization codon (ATG).

 
 
 

Polymorphisms for ALDH5A1:

Currently Under Development
 
 

Substrates, Inhibitors and Enzyme Kinetics for ALDH5A1:

 
 

Tissue Expression & Cellular Localization for ALDH5A1:

Currently Under Development
 
 

Reference List for ALDH5A1:

ALDH5A1 Year Authors Title Journal Pubmed ID
2007 Knerr, Pearl, Bottiglieri, Snead, Jakobs, Gibson
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. J Inherit Metab Dis 17457693
 
2003 Gupta, Hogema, Grompe, Bottiglieri, Concas, Biggio, Sogliano, Rigamonti, Pearl, Snead, et al.
Murine succinate semialdehyde dehydrogenase deficiency. Ann Neurol 12891658
 
2001 Hogema, Gupta, Senephansiri, Burlingame, Taylor, Jakobs, Schutgens, Froestl, Snead, Diaz-Arrastia, et al.
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet 11544478
 
1997 Gibson, Christensen, Jakobs, Fowler, Clarke, Hammersen, Raab, Kobori, Moosa, Vollmer, et al.
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 9093300
 
 
 

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