ALDH5A1 blocking peptide

ALDH5A1 Immunizing Peptide

Cat. Num. AAA427675

• Gene Names: ALDH5A1; SSDH; SSADH
• Reactivity: Human, Mouse, Rat, Dog, Cow
• Synonyms: ALDH5A1; ALDH5A1 Immunizing Peptide; aldehyde dehydrogenase 5 family; member A1; SSADH; SSDH; NAD(+)-dependent succinic semialdehyde dehydrogenase; aldehyde dehydrogenase 5A1; mitochondrial succinate semialdehyde dehydrogenase; succinate-semialdehyde dehydrogenase; ALDH5A1 (aa 301-312); ALDH5A1 blocking peptide

• Reactivity: Human, Mouse, Rat, Dog, Cow
• Form/Format: 100ug of dried peptide
• Sequence: C-TGKILLHHAANS
• Sequence Length: 548

• Preparation and Storage: Shipped at ambient temperature, store at -20 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 25777721
• NCBI GeneID: 7915
• NCBI Accession #: NP_733936.1; NP_001071.1
• NCBI GenBank Nucleotide #: NM_170740.1
• Molecular Weight: 58,653 Da
• NCBI Official Full Name: succinate-semialdehyde dehydrogenase, mitochondrial isoform 1
• NCBI Official Synonym Full Names: aldehyde dehydrogenase 5 family member A1
• NCBI Official Symbol: ALDH5A1
• NCBI Official Synonym Symbols: SSDH; SSADH
• NCBI Protein Information: succinate-semialdehyde dehydrogenase, mitochondrial
• UniProt Protein Name: Succinate-semialdehyde dehydrogenase, mitochondrial
• UniProt Gene Name: ALDH5A1
• UniProt Synonym Gene Names: SSADH
• UniProt Entry Name: SSDH_HUMAN

NCBI 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]

Uniprot Description

ALDH5A1: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency). SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development. Belongs to the aldehyde dehydrogenase family.

Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Mitochondrial; Carbohydrate Metabolism - butanoate; Oxidoreductase; EC 1.2.1.24

Chromosomal Location of Human Ortholog: 6p22

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: aldehyde dehydrogenase (NAD) activity; carboxylic acid binding; NAD binding; protein homodimerization activity; succinate-semialdehyde dehydrogenase [NAD(P)+] activity; succinate-semialdehyde dehydrogenase activity

Biological Process: acetate metabolic process; central nervous system development; galactosylceramide metabolic process; gamma-aminobutyric acid catabolic process; glucose metabolic process; glucosylceramide metabolic process; glutamate metabolic process; glutamine metabolic process; glutathione metabolic process; glycerophospholipid metabolic process; neurotransmitter catabolic process; post-embryonic development; protein homotetramerization; short-chain fatty acid metabolic process; succinate metabolic process

Disease: Succinic Semialdehyde Dehydrogenase Deficiency