ALDH5A1

GENE INFORMATION

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Gene name

ALDH5A1 (HGNC Symbol)

Synonyms

SSADH, SSDH

Description

aldehyde dehydrogenase 5 family, member A1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6 (Chromosome progress)

Cytoband

p22.3

Chromosome location (bp)

24495080 - 24537435

Ensembl

ENSG00000112294 (version 73.37)

Entrez gene

7915

UniProt

P51649 (UniProt - Evidence at protein level)

neXtProt

NX_P51649

Antibodypedia

ALDH5A1 antibodies
 

PROTEIN VIEW

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ALDH5A1-001
 
ALDH5A1-002
 
ALDH5A1-003
 
ALDH5A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALDH5A1-001 ENSP00000350191
ENST00000357578
P51649
Show all »
Show » Show » 535 57.2 No 0
ALDH5A1-002 ENSP00000314649
ENST00000348925
P51649
Show all »
Show » Show » 548 58.7 No 0
ALDH5A1-003 ENSP00000417687
ENST00000491546
C9J8Q5
Show all »
Show » Show » 507 53.9 No 0
ALDH5A1-201 ENSP00000438193
ENST00000546278
F5H328
Show all »
Show » Show » 447 48.3 No 0