Recombinant Human Succinate-semialdehyde dehydrogenase, mitochondrial(ALDH5A1)

Code CSB-EP001577HU
Size US$1726
Image
  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names ALDH5A1
Uniprot No. P51649
Research Area Metabolism
Alternative Names Aldedehyde dehydrogenase 5 family; Aldehyde dehydrogenase 5 family member A1; Aldehyde dehydrogenase 5A1; Aldehyde dehydrogenase family 5 member A1; ALDH5A 1; Aldh5a1; mitochondrial; Mitochondrial succinate semialdehyde dehydrogenase; NAD(+) dependent succinic semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; SSDH; SSDH_HUMAN; Succinate semialdehyde dehydrogenase; Succinate-semialdehyde dehydrogenase
Species Homo sapiens (Human)
Source E.coli
Expression Region 48-535aa
Target Protein Sequence AGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 68.3kDa
Protein Length Full Length of Mature Protein
Tag Info N-terminal 6xHis-SUMO-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

Target Data

Function Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Gene References into Functions
  1. By ALDH5A1 gene expression in transiently transfected HEK293 cells and enzyme activity assays, we demonstrate that the p.V500 L mutation, despite being conservative, produces complete loss of enzyme activity PMID: 28664505
  2. ALDH5A1 mRNA expression was down-regulated in ovarian cancer patients compared with that in normal tissues. PMID: 28346042
  3. SSADH catalytic loop role in the SSADH redox-switch modulation PMID: 26422261
  4. The proband was found to have compound heterozygous mutations of the succinate-semialdehyde dehydrogenase (ALDH5A1) gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. PMID: 28186584
  5. Two novel ALDH5A1 mutations likely responsible for SSADH deficiency were identified, and DNA sequencing provided an accurate diagnosis for an at-risk fetus whose sibling had SSADH deficiency. Current study and literature review identified nine additional novel mutations in eight unrelated families bringing the number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, occurring from exon 1 to exon 10. PMID: 25431891
  6. Pearl et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T PMID: 25558043
  7. Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability. PMID: 23825041
  8. Results show that opioid-dependent patients carrying the T allele of a functional variant in ALDH5A1 had a greater risk of being nonresponders to methadone maintenance treatment PMID: 24230997
  9. The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism. PMID: 24327614
  10. Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency. PMID: 23926001
  11. Succinic semialdehyde dehydrognase deficiency is caused by a mutation of the Aldh5a1-gene resulting in a dysfunction of the enzyme succinic semialdehyde dehydrogenase--{REVIEW} PMID: 23516105
  12. our study identified a novel homozygous ALDH5A1 gene mutation associated with SSADH deficiency. PMID: 22437753
  13. Study seeks to determine whether cerebellar abnormalities are present in human succinic semialdehyde dehydrogenase deficiency on volumetric MRI, compared with radiographic and histologic studies in the mouse model. PMID: 20445195
  14. the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism PMID: 21438145
  15. This study indicated that global disruption of cortical networks in SSADH KO mice, affecting both excitatory and inhibitory neurons. PMID: 20363598
  16. High activity of this protein probably indicates disorders in lymphocyte energy state. PMID: 12629812
  17. Higher SSADH activity is associated with higher intelligence across the general population. PMID: 14981524
  18. The unexpected pattern of human SSADH polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans. PMID: 16786440
  19. Deficiency in humans causes ggamma-hydroxybutyric aciduria. PMID: 17457693
  20. within the 65-85 years age range, the T/T genotype is overrepresented in subjects with impaired cognitive function PMID: 18505418
  21. Redox-switch modulation of human SSADH by dynamic catalytic loop PMID: 19300440
  22. SSADH deficient patients have widespread reduction in benzodiazepine receptor (BZPR) binding, suggested by high endogenous brain GABA levels that downregulate GABA(A)-BZPR binding site availability. PMID: 19667317

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Involvement in disease Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Subcellular Location Mitochondrion
Protein Families Aldehyde dehydrogenase family
Tissue Specificity Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Database Links

HGNC: 408

OMIM: 271980

KEGG: hsa:7915

STRING: 9606.ENSP00000314649

UniGene: Hs.371723

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