Synthetic peptide from residues in Human ALDH5A1
Human, Mouse, Rat
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
This protein belongs to the aldehyde dehydrogenase family of proteins. The ALDH5A1 gene contains 10 exons. 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 a consanguineous family in which 2 sibs and their cousin had SSADH deficiency (271980). The mutation resulted in deletion of exon 9 and a frameshift after amino acid 401 followed by 52 nonsense residues before a stop codon was reached. The 2 sibs in this family exhibited hypotonia in addition to developmental and speech delays, hyporeflexia, and behavioral problems, including mild autism.
Aldehyde Dehydrogenase 5 Family, Member A1; NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase; EC 18.104.22.168; SSADH; Mitochondrial Succinate Semialdehyde Dehydrogenase; Aldehyde Dehydrogenase 5 Family Member A1; Aldehyde Dehydrogenase Family 5 Member A1; Succinate-Semialdehyde Dehydrogenase; EC 1.2.1; SSDH