ALDH5A1
entrez
7915
canonical
uniprot
P51649
canonical
ensembl
ENSG00000112294
resolver
ensp
ENSP00000314649
resolver
ensp
ENSP00000350191
resolver
ensp
ENSP00000500876
resolver
genesymbol
ALDH5A1
resolver
genesymbol_syn
SSADH
resolver
hgnc
HGNC:408
resolver
uniprot
B2RD26
resolver
uniprot
G5E949
resolver
uniprot
Q546H9
resolver
uniprot
Q8N3W6
resolver
uniprot
X5D299
resolver
uniprot
X5DQN2
resolver
uniprot_entry
SSDH_HUMAN
resolver
uniprot_entry
X5D299_HUMAN
resolver
uniprot_entry
X5DQN2_HUMAN
resolver
uniprot_sec
B2RD26
resolver
uniprot_sec
G5E949
resolver
uniprot_sec
Q546H9
resolver
uniprot_sec
Q8N3W6
resolver
activity_regulation
ACTIVITY REGULATION: Redox-regulated. Inhibited under oxidizing conditions. Inhibited by hydrogen peroxide H(2)O(2). {ECO:0000269|PubMed:19300440}.
uniprot
proteins
amino_acid_sequence
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL
uniprot
proteins
disease_involvement
DISEASE: Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. {ECO:0000269|PubMed:11243727, ECO:0000269|PubMed:11901270, ECO:0000269|PubMed:14635103}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.24
uniprot
proteins
function
FUNCTION: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269|PubMed:19300440}.
uniprot
proteins
mass_dalton
57215
uniprot
proteins
mutagenesis
MUTAGEN 213; /note="R->A: Reduces catalytic activity to less than 15% of wild-type."; /evidence="ECO:0000269|PubMed:19300440"; MUTAGEN 334; /note="R->A: Reduces catalytic activity to less than 15% of wild-type."; /evidence="ECO:0000269|PubMed:19300440"; MUTAGEN 342; /note="C->A: Loss of regulation by redox state."; /evidence="ECO:0000269|PubMed:19300440"; MUTAGEN 498; /note="S->A: Reduces catalytic activity to less than 15% of wild-type."; /evidence="ECO:0000269|PubMed:19300440
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; 4-aminobutanoate degradation. {ECO:0000305|PubMed:12208142, ECO:0000305|PubMed:14635103, ECO:0000305|PubMed:19300440, ECO:0000305|PubMed:9683595}.
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
11243727
uniprot
proteins
pubmed
11901270
uniprot
proteins
pubmed
12208142
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14635103
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19300440
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7814412
uniprot
proteins
pubmed
9059628
uniprot
proteins
pubmed
9683595
uniprot
proteins
sequence_length
535
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion.
uniprot
proteins