ALDH5A1
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Also known as SSADHSSDH
Summary
ALDH5A1 (aldehyde dehydrogenase 5 family member A1, HGNC:408) is a protein-coding gene on chromosome 6p22.3, encoding Succinate-semialdehyde dehydrogenase, mitochondrial (P51649). Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
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.
Source: NCBI Gene 7915 — RefSeq curated summary.
At a glance
- Gene–disease (curated): succinic semialdehyde dehydrogenase deficiency (Definitive, ClinGen)
- GWAS associations: 1
- Clinical variants (ClinVar): 892 total — 83 pathogenic, 56 likely-pathogenic
- Phenotypes (HPO): 40
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_001080
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:408 |
| Approved symbol | ALDH5A1 |
| Name | aldehyde dehydrogenase 5 family member A1 |
| Location | 6p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSADH, SSDH |
| Ensembl gene | ENSG00000112294 |
| Ensembl biotype | protein_coding |
| OMIM | 610045 |
| Entrez | 7915 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000348925, ENST00000357578, ENST00000479394, ENST00000491546, ENST00000492697, ENST00000672352, ENST00000672557, ENST00000672619, ENST00000672652, ENST00000675422, ENST00000859835, ENST00000859836, ENST00000859837, ENST00000859838
RefSeq mRNA: 3 — MANE Select: NM_001080
NM_001080, NM_001368954, NM_170740
CCDS: CCDS4555, CCDS4556
Canonical transcript exons
ENST00000357578 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000692463 | 24502523 | 24502606 |
| ENSE00000692464 | 24503263 | 24503433 |
| ENSE00000692465 | 24504869 | 24504985 |
| ENSE00000692467 | 24515167 | 24515310 |
| ENSE00000692469 | 24522767 | 24522925 |
| ENSE00000928795 | 24494969 | 24495350 |
| ENSE00000928799 | 24520401 | 24520544 |
| ENSE00001269736 | 24533507 | 24537207 |
| ENSE00003569213 | 24532119 | 24532177 |
| ENSE00003623245 | 24527997 | 24528166 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 95.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7029 / max 312.7727, expressed in 1366 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66388 | 6.2960 | 1183 |
| 66385 | 3.3167 | 875 |
| 66387 | 0.9793 | 464 |
| 66383 | 0.6627 | 328 |
| 66386 | 0.6310 | 365 |
| 66392 | 0.3674 | 58 |
| 66384 | 0.3051 | 160 |
| 66396 | 0.0426 | 14 |
| 66397 | 0.0320 | 10 |
| 66393 | 0.0226 | 6 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.05 | gold quality |
| biceps brachii | UBERON:0001507 | 94.84 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.69 | gold quality |
| liver | UBERON:0002107 | 94.13 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.66 | gold quality |
| frontal pole | UBERON:0002795 | 93.42 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.39 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.32 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.05 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.91 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 92.90 | gold quality |
| paraflocculus | UBERON:0005351 | 92.80 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.75 | gold quality |
| entorhinal cortex | UBERON:0002728 | 92.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.58 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 92.50 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.41 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.35 | gold quality |
| parietal lobe | UBERON:0001872 | 92.34 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.34 | gold quality |
| temporal lobe | UBERON:0001871 | 92.17 | gold quality |
| amygdala | UBERON:0001876 | 92.09 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.02 | gold quality |
| hypothalamus | UBERON:0001898 | 91.81 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.78 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.50 | gold quality |
| putamen | UBERON:0001874 | 91.48 | gold quality |
| telencephalon | UBERON:0001893 | 91.30 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.19 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.66 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F4, PITX2
miRNA regulators (miRDB)
141 targeting ALDH5A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 38)
- High activity of this protein probably indicates disorders in lymphocyte energy state. (PMID:12629812)
- Higher SSADH activity is associated with higher intelligence across the general population. (PMID:14981524)
- The unexpected pattern of human SSADH polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans. (PMID:16786440)
- Deficiency in humans causes ggamma-hydroxybutyric aciduria. (PMID:17457693)
- within the 65-85 years age range, the T/T genotype is overrepresented in subjects with impaired cognitive function (PMID:18505418)
- Redox-switch modulation of human SSADH by dynamic catalytic loop (PMID:19300440)
- SSADH deficient patients have widespread reduction in benzodiazepine receptor (BZPR) binding, suggested by high endogenous brain GABA levels that downregulate GABA(A)-BZPR binding site availability. (PMID:19667317)
- This study indicated that global disruption of cortical networks in SSADH KO mice, affecting both excitatory and inhibitory neurons. (PMID:20363598)
- Study seeks to determine whether cerebellar abnormalities are present in human succinic semialdehyde dehydrogenase deficiency on volumetric MRI, compared with radiographic and histologic studies in the mouse model. (PMID:20445195)
- the duplication (6)(p22.2) and corresponding hyperactive level of SSADH activity may have negative consequences for GABA metabolism (PMID:21438145)
- our study identified a novel homozygous ALDH5A1 gene mutation associated with SSADH deficiency. (PMID:22437753)
- Succinic semialdehyde dehydrognase deficiency is caused by a mutation of the Aldh5a1-gene resulting in a dysfunction of the enzyme succinic semialdehyde dehydrogenase–{REVIEW} (PMID:23516105)
- Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability. (PMID:23825041)
- Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency. (PMID:23926001)
- Results show that opioid-dependent patients carrying the T allele of a functional variant in ALDH5A1 had a greater risk of being nonresponders to methadone maintenance treatment (PMID:24230997)
- The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism. (PMID:24327614)
- Two novel ALDH5A1 mutations likely responsible for SSADH deficiency were identified, and DNA sequencing provided an accurate diagnosis for an at-risk fetus whose sibling had SSADH deficiency. Current study and literature review identified nine additional novel mutations in eight unrelated families bringing the number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, occurring from exon 1 to exon 10. (PMID:25431891)
- Pearl et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T (PMID:25558043)
- SSADH catalytic loop role in the SSADH redox-switch modulation (PMID:26422261)
- The proband was found to have compound heterozygous mutations of the succinate-semialdehyde dehydrogenase (ALDH5A1) gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. (PMID:28186584)
- ALDH5A1 mRNA expression was down-regulated in ovarian cancer patients compared with that in normal tissues. (PMID:28346042)
- By ALDH5A1 gene expression in transiently transfected HEK293 cells and enzyme activity assays, we demonstrate that the p.V500 L mutation, despite being conservative, produces complete loss of enzyme activity (PMID:28664505)
- ALDH5A1 nonsense mutation is associated with reduced Succinic semialdehyde dehydrogenase activity and stability resulting in Succinic semialdehyde dehydrogenase deficiency. (PMID:29895405)
- Four Chinese patients (two males and two females) at the age of 86 days to 5 years were diagnosed with succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) with aldehyde dehydrogenase family 5 member A1 (ALDH5A1) gene mutations. (PMID:31117962)
- Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency. (PMID:32223457)
- Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. (PMID:32402538)
- SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult. (PMID:32575506)
- ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma. (PMID:32881051)
- Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. (PMID:32887777)
- Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. (PMID:33203024)
- Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness. (PMID:33319393)
- Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. (PMID:34882073)
- Glioma Cells Expressing High Levels of ALDH5A1 Exhibit Enhanced Migration Transcriptional Signature in Patient Tumors. (PMID:36976494)
- Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. (PMID:37962671)
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. (PMID:38110041)
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. (PMID:38658850)
- Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency. (PMID:38791277)
- Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency. (PMID:38862963)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aldh5a1 | ENSDARG00000076544 |
| mus_musculus | Aldh5a1 | ENSMUSG00000035936 |
| rattus_norvegicus | Aldh5a1 | ENSRNOG00000023538 |
| drosophila_melanogaster | Ssadh | FBGN0039349 |
| caenorhabditis_elegans | WBGENE00000113 |
Paralogs (17): ALDH3B1 (ENSG00000006534), ALDH3A2 (ENSG00000072210), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH8A1 (ENSG00000118514), ALDH6A1 (ENSG00000119711), ALDH1A2 (ENSG00000128918), ALDH3B2 (ENSG00000132746), ALDH1L2 (ENSG00000136010), ALDH1B1 (ENSG00000137124), ALDH9A1 (ENSG00000143149), ALDH1L1 (ENSG00000144908), ALDH4A1 (ENSG00000159423), ALDH16A1 (ENSG00000161618), ALDH7A1 (ENSG00000164904), ALDH1A1 (ENSG00000165092), ALDH1A3 (ENSG00000184254)
Protein
Protein identifiers
Succinate-semialdehyde dehydrogenase, mitochondrial — P51649 (reviewed: P51649)
Alternative names: Aldehyde dehydrogenase family 5 member A1, NAD(+)-dependent succinic semialdehyde dehydrogenase
All UniProt accessions (7): A0A5F9ZH05, A0A5F9ZH98, A0A5F9ZI23, C9J8Q5, P51649, X5D299, X5DQN2
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Subunit / interactions. Homotetramer.
Subcellular location. Mitochondrion.
Tissue specificity. Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
Pathway. Amino-acid degradation; 4-aminobutanoate degradation.
Similarity. Belongs to the aldehyde dehydrogenase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P51649-1 | 1 | yes |
| P51649-2 | 2 |
RefSeq proteins (3): NP_001071, NP_001355883, NP_733936 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010102 | Succ_semiAld_DH | Family |
| IPR015590 | Aldehyde_DH_dom | Domain |
| IPR016160 | Ald_DH_CS_CYS | Conserved_site |
| IPR016161 | Ald_DH/histidinol_DH | Homologous_superfamily |
| IPR016162 | Ald_DH_N | Homologous_superfamily |
| IPR016163 | Ald_DH_C | Homologous_superfamily |
| IPR029510 | Ald_DH_CS_GLU | Conserved_site |
| IPR050740 | Aldehyde_DH_Superfamily | Family |
Pfam: PF00171
Enzyme classification (BRENDA):
- EC 1.2.1.24 — succinate-semialdehyde dehydrogenase (NAD+) (BRENDA: 32 organisms, 145 substrates, 80 inhibitors, 117 Km, 7 kcat entries)
Substrate kinetics (BRENDA)
27 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NAD+ | 0.0025–125 | 28 |
| SUCCINATE SEMIALDEHYDE | 0.001–6.3 | 26 |
| ACETALDEHYDE | 0.875–4.82 | 8 |
| 4-CARBOXYBENZALDEHYDE | 0.0121–0.1668 | 6 |
| 3-CARBOXYBENZALDEHYDE | 0.017–0.1418 | 4 |
| NADP+ | 0.552–4.4 | 4 |
| BENZALDEHYDE | 0.019–0.241 | 3 |
| N-BUTANAL | 0.061–0.323 | 3 |
| N-HEXANAL | 0.0253–0.107 | 3 |
| N-PENTANAL | 0.0287–0.096 | 3 |
| PROPANAL | 1.212–1.622 | 3 |
| 3-NITROBENZALDEHYDE | 0.0502–0.287 | 2 |
| 4-NITROBENZALDEHYDE | 0.156–0.1612 | 2 |
| ALPHA-KETOGLUTARIC SEMIALDEHYDE | 0.011–0.0159 | 2 |
| N-OCTANAL | 0.0514–0.137 | 2 |
Catalyzed reactions (Rhea), 1 shown:
- succinate semialdehyde + NAD(+) + H2O = succinate + NADH + 2 H(+) (RHEA:13217)
UniProt features (93 total): strand 23, sequence variant 18, helix 18, modified residue 10, binding site 8, turn 5, mutagenesis site 4, active site 2, transit peptide 1, chain 1, site 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2W8N | X-RAY DIFFRACTION | 2 |
| 2W8P | X-RAY DIFFRACTION | 2.3 |
| 2W8Q | X-RAY DIFFRACTION | 2.4 |
| 2W8R | X-RAY DIFFRACTION | 2.4 |
| 2W8O | X-RAY DIFFRACTION | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P51649-F1 | 92.27 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 205 (transition state stabilizer); 306 (proton acceptor); 340 (nucleophile)
Ligand- & substrate-binding residues (8): 438–440; 498; 202–204; 213; 228–231; 284–289; 306; 334
Post-translational modifications (10): 126, 126, 135, 184, 265, 265, 365, 402, 411, 499
Disulfide bonds (1): 340–342
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 213 | reduces catalytic activity to less than 15% of wild-type. |
| 334 | reduces catalytic activity to less than 15% of wild-type. |
| 342 | loss of regulation by redox state. |
| 498 | reduces catalytic activity to less than 15% of wild-type. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-916853 | Degradation of GABA |
| R-HSA-112310 | Neurotransmitter release cycle |
| R-HSA-112315 | Transmission across Chemical Synapses |
| R-HSA-112316 | Neuronal System |
| R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
MSigDB gene sets: 269 (showing top):
MODULE_172, MODULE_93, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_GLUTAMATE_METABOLIC_PROCESS, MITSIADES_RESPONSE_TO_APLIDIN_DN, LUCAS_HNF4A_TARGETS_UP, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS
GO Biological Process (8): succinate metabolic process (GO:0006105), glutamate metabolic process (GO:0006536), central nervous system development (GO:0007417), GABA catabolic process (GO:0009450), post-embryonic development (GO:0009791), synaptic transmission, GABAergic (GO:0051932), obsolete GABA metabolic process (GO:0009448), carboxylic acid metabolic process (GO:0019752)
GO Molecular Function (5): succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777), identical protein binding (GO:0042802), succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| GABA synthesis, release, reuptake and degradation | 1 |
| Transmission across Chemical Synapses | 1 |
| Neuronal System | 1 |
| Neurotransmitter release cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| dicarboxylic acid metabolic process | 2 |
| amino acid metabolic process | 1 |
| nervous system development | 1 |
| system development | 1 |
| amino acid catabolic process | 1 |
| non-proteinogenic amino acid catabolic process | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| chemical synaptic transmission | 1 |
| oxoacid metabolic process | 1 |
| succinate-semialdehyde dehydrogenase [NAD(P)+] activity | 1 |
| protein binding | 1 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
4104 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ALDH5A1 | ABAT | P80404 | 856 |
| ALDH5A1 | GABRB2 | P47870 | 822 |
| ALDH5A1 | AKR7A2 | O43488 | 719 |
| ALDH5A1 | GAD1 | Q99259 | 662 |
| ALDH5A1 | ALDH18A1 | P54886 | 607 |
| ALDH5A1 | GLUD1 | P00367 | 569 |
| ALDH5A1 | GAD2 | Q05329 | 567 |
| ALDH5A1 | GLUL | P15104 | 558 |
| ALDH5A1 | GLUD2 | P49448 | 527 |
| ALDH5A1 | CS | O75390 | 519 |
| ALDH5A1 | OAT | P04181 | 513 |
| ALDH5A1 | GPLD1 | P80108 | 512 |
| ALDH5A1 | OGDH | Q02218 | 505 |
| ALDH5A1 | PGK1 | P00558 | 484 |
| ALDH5A1 | IDH2 | P48735 | 482 |
IntAct
42 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FGL1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.640 |
| MRPL50 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| GATC | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| MSRB2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| ALDH5A1 | ALDH5A1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ALDH5A1 | MAGEA11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ALDH5A1 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| GLMP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| OXLD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| FGL1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| AP3B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| DENND11 | psi-mi:“MI:0914”(association) | 0.350 | |
| NUDT19 | psi-mi:“MI:0914”(association) | 0.350 | |
| PRKD3 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
| IRAK4 | PRMT5 | psi-mi:“MI:0914”(association) | 0.350 |
| KEAP1 | PTPRZ1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| SRP54 | SRP19 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (73): ALDH5A1 (Affinity Capture-MS), ALDH5A1 (Affinity Capture-MS), ADI1 (Co-fractionation), ALDH1B1 (Co-fractionation), ALDH5A1 (Co-fractionation), ALDH5A1 (Co-fractionation), ALDH5A1 (Co-fractionation), ALDH5A1 (Co-fractionation), ALDH5A1 (Co-fractionation), ARF5 (Co-fractionation), FH (Co-fractionation), SEC31A (Co-fractionation), SEC31B (Co-fractionation), ALDH5A1 (Affinity Capture-MS), ALDH5A1 (Affinity Capture-MS)
ESM2 similar proteins: A7YWE4, O74766, O75891, P07275, P0C2X9, P25795, P28037, P30038, P46562, P49419, P51649, P51650, P54889, P78568, P83401, Q02252, Q02253, Q07536, Q0WM29, Q141D3, Q1GV29, Q29HB2, Q2KJC9, Q2SKP1, Q3MSM3, Q3MSM4, Q3SY69, Q41247, Q54RA2, Q5RFM9, Q64057, Q6A2H0, Q6A2H1, Q6A2H2, Q6JQN1, Q7KW39, Q7QC84, Q7SY23, Q802W2, Q8BWF0
Diamond homologs: A0A2I7G3B0, A0B2F6, A0PN13, A0QMB9, A1KF54, A1UVS4, A2RWD6, A3MEC6, A3P6B0, A3PI00, A4WUY6, A5TYV9, A5VPA5, A6VEI4, A6W2P7, A6X2G8, A7FKL5, A9AN00, A9M9H7, B0CKN3, B1K708, B1Z033, B2SA42, B3PTE1, B4EHJ1, B5ZUG3, B9F3B6, B9JBA3, B9KNS6, C0RHQ3, C3MIE5, E1V7V8, O04895, O14293, O32507, O34660, O69497, O93344, O94788, P05091
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ALDH5A1 | “down-regulates quantity” | 4-oxobutanoate | “chemical modification” |
| ALDH5A1 | “up-regulates quantity” | succinate(2-) | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
892 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 83 |
| Likely pathogenic | 56 |
| Uncertain significance | 331 |
| Likely benign | 269 |
| Benign | 71 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1069046 | NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) | Pathogenic |
| 1070800 | NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter) | Pathogenic |
| 1070877 | NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) | Pathogenic |
| 1070905 | NM_001080.3(ALDH5A1):c.276del (p.Cys93fs) | Pathogenic |
| 1073790 | NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) | Pathogenic |
| 1075244 | NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs) | Pathogenic |
| 1076224 | NC_000006.11:g.(?24505087)(24533940_?)del | Pathogenic |
| 1299018 | NM_001080.3(ALDH5A1):c.503_518del (p.Ser168fs) | Pathogenic |
| 1346959 | NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) | Pathogenic |
| 1350850 | NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs) | Pathogenic |
| 1355 | NM_001080.3(ALDH5A1):c.1343+1G>T | Pathogenic |
| 1356 | NM_001080.3(ALDH5A1):c.727-3298G>A | Pathogenic |
| 1357 | NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) | Pathogenic |
| 1358 | NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) | Pathogenic |
| 1358625 | NC_000006.11:g.(?24532327)(24533940_?)del | Pathogenic |
| 1429807 | NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) | Pathogenic |
| 1435168 | NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) | Pathogenic |
| 1452396 | NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter) | Pathogenic |
| 1452915 | NM_001080.3(ALDH5A1):c.1015-1G>C | Pathogenic |
| 1691448 | NM_001080.3(ALDH5A1):c.728_736del (p.Leu243_Ser245del) | Pathogenic |
| 1810826 | NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met) | Pathogenic |
| 1878435 | NM_001080.3(ALDH5A1):c.278_298dup (p.Arg99_Ala100insGlyGlyValArgGluAlaArg) | Pathogenic |
| 1878439 | NM_001080.3(ALDH5A1):c.375_378del (p.Lys126fs) | Pathogenic |
| 1878441 | NM_001080.3(ALDH5A1):c.412C>T (p.Leu138Phe) | Pathogenic |
| 1878442 | NM_001080.3(ALDH5A1):c.416C>A (p.Ala139Asp) | Pathogenic |
| 1878444 | NM_001080.3(ALDH5A1):c.103_121del (p.Ser35fs) | Pathogenic |
| 1878445 | NM_001080.3(ALDH5A1):c.455_456dup (p.Ala153fs) | Pathogenic |
| 1878446 | NM_001080.3(ALDH5A1):c.461_474del (p.His154fs) | Pathogenic |
| 1878451 | NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly) | Pathogenic |
| 1878452 | NM_001080.3(ALDH5A1):c.562del (p.Ala188fs) | Pathogenic |
SpliceAI
1575 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:24502517:TTGCA:T | acceptor_loss | 1.0000 |
| 6:24502518:TGCAG:T | acceptor_loss | 1.0000 |
| 6:24502519:GCA:G | acceptor_loss | 1.0000 |
| 6:24502520:CAGGA:C | acceptor_loss | 1.0000 |
| 6:24502605:GT:G | donor_gain | 1.0000 |
| 6:24503431:CCGG:C | donor_loss | 1.0000 |
| 6:24503434:G:GG | donor_gain | 1.0000 |
| 6:24503435:T:A | donor_loss | 1.0000 |
| 6:24504861:A:AG | acceptor_gain | 1.0000 |
| 6:24504981:CTGAG:C | donor_loss | 1.0000 |
| 6:24504982:TGAGG:T | donor_loss | 1.0000 |
| 6:24504983:GAGGT:G | donor_loss | 1.0000 |
| 6:24504984:AGG:A | donor_loss | 1.0000 |
| 6:24504985:GGT:G | donor_loss | 1.0000 |
| 6:24504986:G:T | donor_loss | 1.0000 |
| 6:24504987:T:A | donor_loss | 1.0000 |
| 6:24520396:CACAG:C | acceptor_loss | 1.0000 |
| 6:24520398:CAG:C | acceptor_loss | 1.0000 |
| 6:24520399:A:AG | acceptor_gain | 1.0000 |
| 6:24520399:A:C | acceptor_loss | 1.0000 |
| 6:24520400:G:GG | acceptor_gain | 1.0000 |
| 6:24520541:ACAGG:A | donor_loss | 1.0000 |
| 6:24520542:CAGG:C | donor_loss | 1.0000 |
| 6:24520544:GGT:G | donor_loss | 1.0000 |
| 6:24520545:G:A | donor_loss | 1.0000 |
| 6:24520546:T:G | donor_loss | 1.0000 |
| 6:24522766:GACTT:G | acceptor_gain | 1.0000 |
| 6:24522923:AAGG:A | donor_loss | 1.0000 |
| 6:24522924:AGGTA:A | donor_loss | 1.0000 |
| 6:24522925:GGTA:G | donor_loss | 1.0000 |
AlphaMissense
3445 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:24502547:T:A | W127R | 0.995 |
| 6:24502547:T:C | W127R | 0.995 |
| 6:24504897:G:C | R213P | 0.995 |
| 6:24504881:A:C | S208R | 0.994 |
| 6:24504883:T:A | S208R | 0.994 |
| 6:24504883:T:G | S208R | 0.994 |
| 6:24503281:G:C | A153P | 0.993 |
| 6:24504912:C:A | A218D | 0.993 |
| 6:24504906:G:A | G216E | 0.990 |
| 6:24504905:G:A | G216R | 0.989 |
| 6:24504905:G:C | G216R | 0.989 |
| 6:24504918:C:A | A220E | 0.989 |
| 6:24504928:T:G | C223W | 0.988 |
| 6:24504943:G:C | K228N | 0.988 |
| 6:24504943:G:T | K228N | 0.988 |
| 6:24515284:T:C | F282L | 0.988 |
| 6:24515286:T:A | F282L | 0.988 |
| 6:24515286:T:G | F282L | 0.988 |
| 6:24504924:G:T | G222V | 0.987 |
| 6:24502528:G:C | R120S | 0.986 |
| 6:24502528:G:T | R120S | 0.986 |
| 6:24503342:G:C | R173P | 0.986 |
| 6:24504905:G:T | G216W | 0.986 |
| 6:24515281:T:C | S281P | 0.986 |
| 6:24520405:T:C | L292P | 0.986 |
| 6:24532120:T:C | F449L | 0.986 |
| 6:24532122:C:A | F449L | 0.986 |
| 6:24532122:C:G | F449L | 0.986 |
| 6:24504874:T:A | N205K | 0.985 |
| 6:24504874:T:G | N205K | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000178666 (6:24530047 A>G), RS1000205418 (6:24507639 G>A), RS1000250698 (6:24530345 T>C), RS1000370319 (6:24494925 TCCCCGCGAC>T), RS1000457571 (6:24536529 G>A,C), RS1000470247 (6:24515002 A>G), RS1000481622 (6:24494187 T>C), RS1000657512 (6:24508077 T>C), RS1000688115 (6:24501406 G>C,T), RS1000697830 (6:24501571 G>T), RS1000732283 (6:24521924 T>C), RS1000842271 (6:24526449 T>A,G), RS1000865286 (6:24497503 T>C), RS1000946124 (6:24520017 A>G), RS1000949318 (6:24503127 A>C)
Disease associations
OMIM: gene MIM:610045 | disease phenotypes: MIM:271980, MIM:617468, MIM:208150
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| succinic semialdehyde dehydrogenase deficiency | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| succinic semialdehyde dehydrogenase deficiency | Definitive | AR |
Mondo (5): succinic semialdehyde dehydrogenase deficiency (MONDO:0010083), prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101)
Orphanet (5): Succinic semialdehyde dehydrogenase deficiency (Orphanet:22), Familial prostate cancer (Orphanet:1331), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
40 total (30 of 40 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000496 | Abnormality of eye movement |
| HP:0000708 | Atypical behavior |
| HP:0000709 | Psychosis |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002133 | Status epilepticus |
| HP:0002188 | Delayed CNS myelination |
| HP:0002353 | EEG abnormality |
| HP:0002487 | Hyperkinetic movements |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0011462 | Young adult onset |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001276_12 | Liver enzyme levels (alkaline phosphatase) | 6.000000e-26 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C535803 | succinic semialdehyde dehydrogenase deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL1911 (SINGLE PROTEIN), CHEMBL3542434 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2760118 | Efficacy | 3 | methadone | Opioid-Related Disorders |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2760118 | ALDH5A1 | 3 | 3.00 | 1 | methadone |
| rs72552282 | ALDH5A1 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — GABA turnover
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| 4-acryloylphenol | Inhibition | 6.46 | pIC50 |
ChEMBL bioactivities
1 potent at pChembl≥5 of 4 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.46 | IC50 | 350 | nM | CHEMBL378577 |
PubChem BioAssay actives
1 with measured affinity, of 19 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 1-(4-hydroxyphenyl)prop-2-en-1-one | 260087: Inhibitory activity against SSADH | ic50 | 0.3500 | uM |
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Leflunomide | decreases expression | 2 |
| Acetaminophen | affects expression, decreases expression | 2 |
| Air Pollutants | decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| bisphenol F | increases expression | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| senkirkine | decreases expression | 1 |
| heliotrine | decreases expression | 1 |
| tetrahydropalmatine | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| nickel sulfate | increases expression | 1 |
| n-butoxyacetaldehyde | increases oxidation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| 4-hydroxybutyric acid | increases abundance | 1 |
| motexafin gadolinium | decreases reaction, increases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2208565 | Binding | Inhibition of succinic semialdehyde dehydrogenase using succinic semialdehyde as substrate incubated up to 20 hrs prior to substrate addition measured after 30 mins by spectrophotometric analysis | (1S, 3S)-3-amino-4-difluoromethylenyl-1-cyclopentanoic acid (CPP-115), a potent γ-aminobutyric acid aminotransferase inactivator for the treatment of cocaine addiction. — J Med Chem |
Cellosaurus cell lines
8 cell lines: 6 induced pluripotent stem cell, 1 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D6RV | BCHi007-A | Induced pluripotent stem cell | Female |
| CVCL_D6RW | BCHi007-A-1 | Induced pluripotent stem cell | Female |
| CVCL_D6RX | BCHi009-A | Induced pluripotent stem cell | Male |
| CVCL_D6RY | BCHi009-A-1 | Induced pluripotent stem cell | Male |
| CVCL_D6RZ | BCHi011-A | Induced pluripotent stem cell | Male |
| CVCL_D6S0 | BCHi011-A-1 | Induced pluripotent stem cell | Male |
| CVCL_D6YX | GM28820 | Transformed cell line | Female |
| CVCL_E0VE | Ubigene Huh-7 ALDH5A1 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
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Related Atlas pages
- Associated diseases: succinic semialdehyde dehydrogenase deficiency
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arthrogryposis multiplex congenita, fetal akinesia deformation sequence 1, succinic semialdehyde dehydrogenase deficiency