Succinate-semialdehyde dehydrogenase, mitochondrial

Function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Classification

Family (Pfam)

PF00171 Aldedh

InterPro

Ald_DH/histidinol_DH, Ald_DH_C, Ald_DH_CS_CYS, Ald_DH_CS_GLU, Ald_DH_N, Aldehyde_DH_dom, Aldehyde_DH_Superfamily, Succ_semiAld_DH

Functional cluster

Oxidoreductases & Polyketide Synthases

Experimental structures · PDB · 5

• 2W8N X-ray 2.00A
• 2W8O X-ray 3.40A
• 2W8P X-ray 2.30A
• 2W8Q X-ray 2.40A
• 2W8R X-ray 2.40A

A predicted model is available from AlphaFold.

Gene Ontology · 8

• GO:0005759 mitochondrial matrix
• GO:0005739 mitochondrion
• GO:0042802 identical protein binding
• GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity
• GO:0007417 central nervous system development
• GO:0009450 gamma-aminobutyric acid catabolic process
• GO:0006536 glutamate metabolic process
• GO:0006105 succinate metabolic process

Disease associations

• succinic semialdehyde dehydrogenase deficiency MONDO:0010083

Drugs targeting this protein · 3

• VALPROIC ACID inhibitor
• DIVALPROEX SODIUM inhibitor
• VALPROATE SODIUM inhibitor

Related proteins · sequence + function similarity

• Succinate-semialdehyde dehydrogenase, mitochondrial 1.00
• Succinate-semialdehyde dehydrogenase, mitochondrial 1.00
• Succinate-semialdehyde dehydrogenase, mitochondrial 1.00
• Succinate-semialdehyde dehydrogenase, mitochondrial 1.00
• Succinate-semialdehyde dehydrogenase, mitochondrial 0.99
• Succinate-semialdehyde dehydrogenase, mitochondrial 0.96
• Succinate-semialdehyde dehydrogenase, mitochondrial 0.94
• 4-trimethylaminobutyraldehyde dehydrogenase B 0.89
• Aldehyde dehydrogenase, mitochondrial 0.84
• Betaine aldehyde dehydrogenase 1 0.84
• 4-trimethylaminobutyraldehyde dehydrogenase 0.84
• Aldehyde dehydrogenase, mitochondrial 0.84

Co-cited proteins · studied together in the literature

• Succinate-semialdehyde dehydrogenase, mitochondrial 1 shared papers
• Phosphomevalonate kinase 1 shared papers

Literature · 14 cited papers

• An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
• Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
• Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science · 2009
• Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J. · 2009
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
• Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
• Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum. Mutat. · 2003
• The DNA sequence and analysis of human chromosome 6. Nature · 2003
• Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol. Genet. Metab. · 2002
• Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. Hum. Hered. · 2002
• Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol. Genet. Metab. · 2001
• Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am. J. Hum. Genet. · 1998
• … and 2 more in the literature graph