Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | ALDH5A1 | contributors: mct/npt - updated : 28-06-2006 |
HGNC name | aldehyde dehydrogenase 5 family, member A1 |
HGNC id | 408 |
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EXPRESSION |
Type | widely |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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mono polymer | heteromer , tetramer |
HOMOLOGY |
interspecies | homolog to murine Aldh5a1 |
Homologene |
FAMILY |
CATEGORY | transport |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | electron transport |
PATHWAY |
metabolism | drug , organic acid |
signaling |
GABA metabolism |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | regulated by redox-switch modulation that confers a response to reactive oxygen species (ROS) and changes in redox status (Kim 2009) |
ASSOCIATED DISORDERS |
corresponding disease(s) | SSADH |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene | murine SSADH-/- (e.g. Aldh5a1-/-) mouse model suffers from epileptic seizures and succumbs to early lethality. Aldh5a1-/- mice accumulate GHB and gamma-aminobutyric acid (GABA) in the central nervous system, exhibit alterations of amino acids such as glutamine (Gln), alanine (Ala) and arginine (Arg), and manifest disturbances in other systems including dopamine, neurosteroids and antioxidant status (Knerr 2007) | |
Marker
Therapy target
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ANIMAL & CELL MODELS |