Recombinant Human ALDH5A1 Protein, GST-tagged
Cat.No. : | ALDH5A1-450H |
Product Overview : | Human ALDH5A1 full-length ORF ( NP_001071.1, 1 a.a. - 535 a.a.) recombinant protein with GST-tag at N-terminal. |
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Description : | 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] |
Source : | Wheat Germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 83.6 kDa |
AA Sequence : | MATCIWLRSCGARRLGSTFPGCRLR PRAGGLVPASGPAPGPAQLRCYAGR LAGLSAALLRTDSFVGGRWLPAAAT FPVQDPASGAALGMVADCGVREARA AVRAAYEAFCRWREVSAKERSSLLR KWYNLMIQNKDDLARIITAESGKPL KEAHGEILYSAFFLEWFSEEARRVY GDIIHTPAKDRRALVLKQPIGVAAV ITPWNFPSAMITRKVGAALAAGCTV VVKPAEDTPFSALALAELASQAGIP SGVYNVIPCSRKNAKEVGEAICTDP LVSKISFTGSTTTGKILLHHAANSV KRVSMELGGLAPFIVFDSANVDQAV AGAMASKFRNTGQTCVCSNQFLVQR GIHDAFVKAFAEAMKKNLRVGNGFE EGTTQGPLINEKAVEKVEKQVNDAV SKGATVVTGGKRHQLGKNFFEPTLL CNVTQDMLCTHEETFGPLAPVIKFD TEEEAIAIANAADVGLAGYFYSQDP AQIWRVAEQLEVGMVGVNEGLISSV ECPFGGVKQSGLGREGSKYGIDEYL ELKYVCYGGL |
Applications : | Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array |
Notes : | Best use within three months from the date of receipt of this protein. |
Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | ALDH5A1 aldehyde dehydrogenase 5 family, member A1 [ Homo sapiens ] |
Official Symbol : | ALDH5A1 |
Synonyms : | ALDH5A1; aldehyde dehydrogenase 5 family, member A1; succinate-semialdehyde dehydrogenase, mitochondrial; SSADH; SSDH; succinate semialdehyde dehydrogenase; aldehyde dehydrogenase family 5 member A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; |
Gene ID : | 7915 |
mRNA Refseq : | NM_001080 |
Protein Refseq : | NP_001071 |
MIM : | 610045 |
UniProt ID : | P51649 |
Products Types
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◆ Lysates | ||
ALDH5A1-60HCL | Recombinant Human ALDH5A1 cell lysate | +Inquiry |
Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (13)
Ask a questionAlong with its primary role in GABA metabolism, ALDH5A1 may participate in other metabolic pathways. It has been suggested to be involved in the detoxification of certain aldehydes, although the extent of its contribution to these pathways is not fully understood. Further research is needed to elucidate the involvement of ALDH5A1 in other metabolic processes.
Deficiency or mutations in ALDH5A1 result in succinic semialdehyde dehydrogenase deficiency (SSADH), also known as GABA-transaminase deficiency. This condition leads to the accumulation of elevated levels of SSA and GABA-related metabolites, impacting GABAergic neurotransmission. SSADH is characterized by various neurological symptoms, including developmental delays, intellectual disability, seizures, ataxia, hypotonia, and behavioral abnormalities.
ALDH5A1 is involved in the GABA metabolic pathway, as it plays a crucial role in converting succinic semialdehyde to succinate. It is also implicated in oxidative stress defense mechanisms and has been linked to neurodevelopmental processes, such as neuronal migration and axon guidance.
ALDH5A1 plays a crucial role in the metabolism of gamma-aminobutyric acid (GABA), a neurotransmitter in the central nervous system. It catalyzes the conversion of succinic semialdehyde (SSA) to succinate, preventing the accumulation of SSA and GABA-related metabolites. Thus, ALDH5A1 acts as an important enzyme in the GABA degradation pathway, maintaining proper GABA levels and neuronal function.
Yes, there is ongoing research into the development of small molecules and inhibitors that can modulate ALDH5A1 activity for therapeutic purposes. Targeting ALDH5A1 may offer potential treatments for neurological disorders, cancer, and other conditions related to ALDH5A1 dysregulation.
Yes, mutations in the ALDH5A1 gene are associated with succinic semialdehyde dehydrogenase deficiency (SSADH). These mutations can lead to reduced enzyme activity or protein instability, resulting in the accumulation of toxic levels of succinic semialdehyde and GABA-related metabolites.
ALDH5A1 activity and expression levels could serve as biomarkers to predict drug response and optimize treatment strategies. Determining an individual's ALDH5A1 status may help personalize medication regimens for better therapeutic outcomes.
Yes, mutations or dysregulation in the ALDH5A1 gene can lead to a disorder called succinic semialdehyde dehydrogenase deficiency (SSADH). This condition disrupts GABA metabolism and is associated with various neurological symptoms, such as developmental delay, intellectual disability, and seizures.
Yes, while ALDH5A1 is primarily expressed in the brain, it is also found in other tissues, albeit at lower levels. ALDH5A1 expression has been reported in the liver, kidney, heart, and other organs, indicating its involvement in other metabolic processes outside the central nervous system.
The expression and activity of ALDH5A1 can be regulated at various levels. Transcriptional regulation through specific transcription factors can control the gene expression of ALDH5A1. Additionally, post-translational modifications, such as phosphorylation or acetylation, can modulate the protein's activity. Various signaling pathways and genetic factors can influence ALDH5A1 regulation.
ALDH5A1 deficiency is typically diagnosed through biochemical tests, such as measuring elevated levels of GABA and SSA in body fluids, including urine and cerebrospinal fluid. Genetic testing is also performed to confirm the presence of mutations in the ALDH5A1 gene. Additionally, clinical evaluation and neurological assessment may be conducted to evaluate the symptoms and presentation of the individual.
While natural inhibitors or activators specific to ALDH5A1 have not been extensively studied, certain compounds that modulate the activity or expression of aldehyde dehydrogenase enzymes in general may indirectly affect ALDH5A1 as well. For instance, some chemicals or drugs can inhibit or activate aldehyde dehydrogenases, which potentially includes ALDH5A1, depending on their specificity.
Targeting ALDH5A1 holds promise for therapeutic intervention, especially in the context of succinic semialdehyde dehydrogenase deficiency (SSADH). Developing drugs or treatments that can modulate ALDH5A1 activity or stabilize the mutated protein could potentially ameliorate the symptoms associated with this disorder. However, further research is needed to fully understand the implications and feasibility of targeting ALDH5A1 for therapeutic purposes.
Customer Reviews (4)
Write a reviewTheir expertise and assistance have been invaluable in troubleshooting and providing insightful solutions, greatly enhancing the progress of my experiments.
The ALDH5A1 Protein's superior stability and functional performance render it an indispensable tool for a wide range of scientific investigations.
They have proven to be a timely and reliable resource, readily addressing any concerns or challenges that arise during my research.
What further sets the ALDH5A1 Protein apart is the outstanding technical support provided by the manufacturer.
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