Recombinant Human ALDH5A1, His-tagged

• Cat.No.: ALDH5A1-26496TH
• Product Overview: Recombinant fragment, corresponding to amino acids 109-535 of Human ALDH5A1 with an N terminal His tag. Observed mwt: 56 kDa

Specification

• 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.
• Conjugation: HIS
• Source: E. coli
• Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
• Form: Lyophilised:Reconstitute with 114 μl aqua dest.
• Storage buffer: Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: FCRWREVSAKERSSLLRKWYNLMIQ NKDDLARIITAESGK PLKEAHGEILYSAFFLEWFSEEARR VYGDIIHTPAKDR RALVLKQPIGVAAVITPWNFPSAMI TRKVGAALAAGCTVVVKPAEDTPFS ALALAELASQAGIPSGVYNVIPCSR KNA KEVGEAICTDPLVSKISFTGSTTTG KILLHHAANSVKR VSMELGGLAPFIVFDSANVDQAVAG AMASKFRNTGQTCVCSNQFLVQRGI HDAFVKAFAEAMKKNLRVGNGFEEG TTQ GPLINEKAVEKVEKQVNDAVSKGAT VVTGGKRHQLGKN FFEPTLLCNVTQDMLCTHEETFGPL APVIKFDTEEEAIAIANAADVGLAG YFYSQDPAQIWRVAEQLEVGMVGVN EGL ISSVECPFGGVKQSGLGREGSKYGI DEYLELKYVCYGG L
• Sequence Similarities: Belongs to the aldehyde dehydrogenase family.

Gene Information

• 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
• Gene ID: 7915
• mRNA Refseq: NM_001080
• Protein Refseq: NP_001071
• MIM: 610045
• Uniprot ID: P51649
• Chromosome Location: 6p22
• Pathway: Alanine, aspartate and glutamate metabolism, organism-specific biosystem; Alanine, aspartate and glutamate metabolism, conserved biosystem; Butanoate metabolism, organism-specific biosystem; Butanoate metabolism, conserved biosystem; Degradation of GABA, organism-specific biosystem
• Function: oxidoreductase activity; protein homodimerization activity; succinate-semialdehyde dehydrogenase activity; succinate-semialdehyde dehydrogenase activity