ALDH7A1
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
Full Name
Aldehyde Dehydrogenase 7 Family Member A1
Function
Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
Biological Process
Cellular aldehyde metabolic process Source: UniProtKB
Choline catabolic process Source: Reactome
Glycine betaine biosynthetic process from choline Source: UniProtKB-UniPathway
Lysine catabolic process Source: Reactome
Sensory perception of sound Source: ProtInc
Choline catabolic process Source: Reactome
Glycine betaine biosynthetic process from choline Source: UniProtKB-UniPathway
Lysine catabolic process Source: Reactome
Sensory perception of sound Source: ProtInc
Cellular Location
Nucleus; Cytosol
Isoform 1: Mitochondrion
Isoform 1: Mitochondrion
Involvement in disease
Pyridoxine-dependent epilepsy (PDE): Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
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Anti-ALDH7A1 antibodies
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Target: ALDH7A1
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Avian
Clone: C4
Application*: WB, IP, IF, E, P
Target: ALDH7A1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Avian
Clone: CBYC-A526
Application*: WB
Target: ALDH7A1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: D7
Application*: WB, IP, IF, E
Target: ALDH7A1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 11
Application*: P
Target: ALDH7A1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 105
Application*: WB, E, IP
Target: ALDH7A1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 101
Application*: FC, IC, IF
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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