Cat.No.:	ALDH5A1-60HCL
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.
Species:	Human
Size:	100 ul
Storage Buffer:	1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Applications:	Western Blot;

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
Chromosome Location:	6p22
Pathway:	4-aminobutyrate degradation I, organism-specific biosystem; 4-aminobutyrate degradation I, conserved biosystem; 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;

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