ALDH3A2

Summary

ALDH3A2 (aldehyde dehydrogenase 3 family member A2, HGNC:403) is a protein-coding gene on chromosome 17p11.2, encoding Aldehyde dehydrogenase family 3 member A2 (P51648). Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids.

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 224 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Sjogren-Larsson syndrome (Definitive, GenCC)
• Clinical variants (ClinVar): 728 total — 82 pathogenic, 80 likely-pathogenic
• Phenotypes (HPO): 47
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000382

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:403
Approved symbol	ALDH3A2
Name	aldehyde dehydrogenase 3 family member A2
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	FALDH
Ensembl gene	ENSG00000072210
Ensembl biotype	protein_coding
OMIM	609523
Entrez	224

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 34 protein_coding, 12 retained_intron, 5 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000176643, ENST00000339618, ENST00000395575, ENST00000446398, ENST00000467473, ENST00000472059, ENST00000476965, ENST00000571163, ENST00000571537, ENST00000573505, ENST00000573565, ENST00000573947, ENST00000574078, ENST00000574597, ENST00000575384, ENST00000578614, ENST00000578696, ENST00000579403, ENST00000579855, ENST00000580550, ENST00000581518, ENST00000582991, ENST00000584332, ENST00000626500, ENST00000630662, ENST00000631291, ENST00000671841, ENST00000671878, ENST00000672059, ENST00000672322, ENST00000672357, ENST00000672465, ENST00000672487, ENST00000672564, ENST00000672567, ENST00000672591, ENST00000672608, ENST00000672709, ENST00000673064, ENST00000673136, ENST00000673472, ENST00000673516, ENST00000877753, ENST00000877754, ENST00000877755, ENST00000877756, ENST00000877757, ENST00000877758, ENST00000932536, ENST00000932537, ENST00000932538, ENST00000948946, ENST00000948947, ENST00000948948

RefSeq mRNA: 8 — MANE Select: NM_000382 NM_000382, NM_001031806, NM_001369136, NM_001369137, NM_001369138, NM_001369139, NM_001369146, NM_001369148

CCDS: CCDS11210, CCDS32589

Canonical transcript exons

ENST00000176643 — 10 exons

Exon	Start	End
ENSE00001186438	19648751	19649124
ENSE00003478307	19675558	19677596
ENSE00003480537	19651547	19651778
ENSE00003508178	19656366	19656574
ENSE00003575021	19657745	19657862
ENSE00003610203	19671721	19671956
ENSE00003616786	19664948	19665047
ENSE00003623312	19661127	19661268
ENSE00003631112	19663333	19663499
ENSE00003640393	19652547	19652632

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 99.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3892 / max 317.8015, expressed in 1743 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159852	21.0907	1739
159855	5.2742	1099
159853	0.5289	307
159854	0.4954	259

Top tissues by expression

299 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.47	gold quality
right adrenal gland cortex	UBERON:0035827	99.14	gold quality
right adrenal gland	UBERON:0001233	99.11	gold quality
left adrenal gland	UBERON:0001234	99.05	gold quality
left adrenal gland cortex	UBERON:0035825	99.05	gold quality
adrenal cortex	UBERON:0001235	99.04	gold quality
upper leg skin	UBERON:0004262	98.89	gold quality
adrenal gland	UBERON:0002369	98.87	gold quality
esophagus squamous epithelium	UBERON:0006920	98.72	gold quality
skin of hip	UBERON:0001554	98.68	gold quality
skin of abdomen	UBERON:0001416	98.62	gold quality
hair follicle	UBERON:0002073	98.49	gold quality
epithelium of esophagus	UBERON:0001976	98.40	gold quality
tongue squamous epithelium	UBERON:0006919	98.31	gold quality
nephron tubule	UBERON:0001231	98.26	gold quality
zone of skin	UBERON:0000014	98.25	gold quality
squamous epithelium	UBERON:0006914	98.23	gold quality
nipple	UBERON:0002030	98.10	gold quality
skin of leg	UBERON:0001511	98.06	gold quality
upper arm skin	UBERON:0004263	98.05	gold quality
esophagus mucosa	UBERON:0002469	97.94	gold quality
gingival epithelium	UBERON:0001949	97.92	gold quality
pharyngeal mucosa	UBERON:0000355	97.87	gold quality
gingiva	UBERON:0001828	97.85	gold quality
mouth mucosa	UBERON:0003729	97.64	gold quality
mammalian vulva	UBERON:0000997	97.62	gold quality
minor salivary gland	UBERON:0001830	97.58	gold quality
liver	UBERON:0002107	97.51	gold quality
right lobe of liver	UBERON:0001114	97.37	gold quality
calcaneal tendon	UBERON:0003701	97.37	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	1149.40
E-CURD-114	yes	63.73
E-MTAB-5061	yes	25.64
E-GEOD-76312	no	78.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, PPARA

miRNA regulators (miRDB)

76 targeting ALDH3A2, 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-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-3175	99.65	66.30	2031

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 33)

• Fibroblasts of patients affected by Sjogren Larsson syndrome were found to be deficient in microsomal fatty aldehyde dehydrogenase. (PMID:15110319)
• seven novel ALDH3A2 mutations and their associated haplotypes envolved in Sjogren-Larsson Syndrome were identified in 13 patients and one fetus. (PMID:15241804)
• REVIEW: mutation update of Sjogren-Larsson syndrome (PMID:15931689)
• We report novel compound heterozygous mutations in ALDH3A2 in a Japanese family with Sjogren-Larsson syndrome. (PMID:16794583)
• Minireview summarizes recent advances in the molecular genetics of fatty aldehyde dehydrogenase (FALDH) deficiency and the biochemical pathogenesis of Sjogren-Larsson syndrome. (PMID:16996289)
• FALDH variants are produced by alternative splicing and share an important role in protecting against oxidative stress in an organelle-specific manner. (PMID:17510064)
• These results add to understanding of the genetic basis of Sjogren-Larsson syndrome. (PMID:17902024)
• FALDH deficiency in keratinocytes from patients with Sjogren-Larsson syndrome causes accumulation and diversion of fatty alcohol into alternative biosynthetic pathways. (PMID:17971613)
• Mutational analysis identified compound heterozygous mutations in each allele of fatty aldehyde dehydrogenase gene, confirming Sjogren-Larsson syndrome. (PMID:17998529)
• A structural model of FALDH has been constructed, and catalytically important residues have been proposed to be involved in alcohol and aldehyde oxidation: Gln-120, Glu-207, Cys-241, Phe-333, Tyr-410 and His-411. (PMID:18035827)
• The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations. (PMID:20883264)
• SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes. (PMID:21524986)
• We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2. (PMID:21684788)
• Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene. (PMID:21872273)
• We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC. (PMID:22397046)
• the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid (PMID:22633490)
• variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms. (PMID:23034980)
• A previously unreported novel ALDH3A2 mutation was identified, c.681-14T>G, in a Sjogren-Larsson syndrome patient (homozygote) and his asymptomatic parents (heterozygotes). (PMID:24377952)
• The gatekeeper helix domain is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. (PMID:25047030)
• Sjogren-Larsson syndrome belongs to a new group of inborn-errors-of-metabolism with inherited defects in phospholipids, sphingolipids and fatty-acids biosynthesis. It is caused by ALDH3A2 gene mutations. (PMID:25532748)
• Sjogren-Larsson Syndrome patients with ALDH3A2 mutations exhibit retinal disease in retinal cell layers (PMID:25784589)
• In female infertility, ALDH3A2 expression levels were higher in patients greater than 40 years of age and in poor responders compared to oocyte donors. (PMID:26449735)
• Homozygous ALDH3A2 mutations exhibited an unusual neuro-regressive clinical course associated with seizures in Sjogren-Larsson syndrome patients, which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population. (PMID:29183715)
• recruitment of the forkhead protein FOXH1 on open chromatin regions integrates the signals of Activin/Smad2 and Wnt/beta-catenin to activate the expression of the ME genes including HAS2 and ALDH3A2 Consistently, H3K27me3 decrease is enriched on open chromatin around regulatory regions (PMID:30282636)
• We have established a patient-centered database for pathogenic variants in the ALDH3A2 gene, which contains both, genotype information for individual patients as well as clinical data. (PMID:30372562)
• Phenotypic and mutational spectrum of thirty-five patients with Sjogren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. (PMID:31273323)
• Study from seven unrelated Egyptian pedigrees with Sjogren-Larsson syndrome revealed a novel pathogenic variant in the ALDH3A2 gene including one novel stop codon mutation; c.991G>T (p.E331X) and suggested a founder effect. (PMID:31388754)
• Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene. (PMID:32085885)
• Macular crystalline inclusions in Sjogren-Larsson syndrome are dynamic structures that undergo remodeling. (PMID:32506993)
• Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation. (PMID:32930514)
• Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis. (PMID:33148208)
• Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients. (PMID:34082469)
• Inhibit ALDH3A2 reduce ovarian cancer cells survival via elevating ferroptosis sensitivity. (PMID:37247796)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldh3a1	ENSDARG00000074791
mus_musculus	Aldh3a2	ENSMUSG00000010025
rattus_norvegicus	Aldh3a2	ENSRNOG00000002342
drosophila_melanogaster	CG8665	FBGN0032945
drosophila_melanogaster	CG31075	FBGN0051075
caenorhabditis_elegans		WBGENE00000107
caenorhabditis_elegans		WBGENE00000108
caenorhabditis_elegans		WBGENE00000109

Paralogs (17): ALDH3B1 (ENSG00000006534), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH5A1 (ENSG00000112294), 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

Aldehyde dehydrogenase family 3 member A2 — P51648 (reviewed: P51648)

Alternative names: Aldehyde dehydrogenase 10, Fatty aldehyde dehydrogenase, Microsomal aldehyde dehydrogenase

All UniProt accessions (20): P51648, A0A0D9SGC3, A0A5F9ZGX4, A0A5F9ZHI5, A0A5F9ZHN9, A0A5F9ZHP6, A0A5F9ZHZ9, A0A5F9ZI12, A0A5K1VW72, I3L0X1, I3L1M4, I3L2W1, I3L4G6, J3KTD9, J3KTG1, J3QKK9, J3QQV9, J3QRD1, J3QS00, K7EN73

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.

Subunit / interactions. Homodimer.

Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.

Tissue specificity. Detected in liver (at protein level).

Disease relevance. Sjoegren-Larsson syndrome (SLS) [MIM:270200] An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the aldehyde dehydrogenase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P51648-1	1	yes
P51648-2	2

RefSeq proteins (8): NP_000373, NP_001026976, NP_001356065, NP_001356066, NP_001356067, NP_001356068, NP_001356075, NP_001356077 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012394	Aldehyde_DH_NAD(P)	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

Pfam: PF00171

Enzyme classification (BRENDA):

• EC 1.2.1.48 — long-chain-aldehyde dehydrogenase (BRENDA: 13 organisms, 85 substrates, 29 inhibitors, 32 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

25 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
NAD+	0.18–0.28	3
DECANAL	0.0038–0.023	2
DODECANAL	0.0136–0.019	2
HEXADECANAL	0.0083–0.032	2
OCTADECANAL	0.02–0.021	2
TETRADECANAL	0.0103–0.023	2
(11Z)-HEXADEC-11-ENAL	0.0343	1
ACETALDEHYDE	2.5	1
ARACHIDIC ALDEHYDE	0.038	1
BEHENIC ALDEHYDE	0.036	1
BENZALDEHYDE	1.44	1
CIS,CIS-9,12-OCTADECADIENAL	0.006	1
CIS-9-HEXADECENAL	0.012	1
CIS-9-OCTADECENAL	0.011	1
CROTONALDEHYDE	0.8	1

Catalyzed reactions (Rhea), 12 shown:

• an aldehyde + NAD(+) + H2O = a carboxylate + NADH + 2 H(+) (RHEA:16185)
• (2E,6E)-farnesal + NAD(+) + H2O = (2E,6E)-farnesoate + NADH + 2 H(+) (RHEA:24216)
• hexadecanoate + NADH + 2 H(+) = hexadecanal + NAD(+) + H2O (RHEA:33739)
• (2E)-hexadecenal + NAD(+) + H2O = (E)-hexadec-2-enoate + NADH + 2 H(+) (RHEA:36135)
• 22-oxodocosanoate + NAD(+) + H2O = docosanedioate + NADH + 2 H(+) (RHEA:39015)
• 2,6,10,14-tetramethylpentadecanal + NAD(+) + H2O = 2,6,10,14-tetramethylpentadecanoate + NADH + 2 H(+) (RHEA:44016)
• octadecanal + NAD(+) + H2O = octadecanoate + NADH + 2 H(+) (RHEA:44020)
• octanal + NAD(+) + H2O = octanoate + NADH + 2 H(+) (RHEA:44100)
• decanal + NAD(+) + H2O = decanoate + NADH + 2 H(+) (RHEA:44104)
• heptanal + NAD(+) + H2O = heptanoate + NADH + 2 H(+) (RHEA:44108)
• dodecanoate + NADH + 2 H(+) = dodecanal + NAD(+) + H2O (RHEA:44168)
• tetradecanal + NAD(+) + H2O = tetradecanoate + NADH + 2 H(+) (RHEA:44172)

UniProt features (86 total): sequence variant 27, helix 23, strand 17, mutagenesis site 6, turn 5, active site 2, chain 1, topological domain 1, transmembrane region 1, binding site 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4QGK	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51648-F1	96.53	0.93

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 (2): 207; 241

Ligand- & substrate-binding residues (1): 185–190

Post-translational modifications (1): 293

Mutagenesis-validated functional residues (6):

Position	Phenotype
112	loss of enzyme activity.
207	loss of enzyme activity.
241	loss of enzyme activity.
331	loss of enzyme activity.
410	decreased enzyme activity with dodecanal and hexadecanal. no effect on enzyme activity with octanal.
445–485	decreased enzyme activity with dodecanal. strongly decreased enzyme activity with hexadecanal. no effect on enzyme activ

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle
R-HSA-389599	Alpha-oxidation of phytanate
R-HSA-9603798	Class I peroxisomal membrane protein import
R-HSA-9609523	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
R-HSA-9845614	Sphingolipid catabolism
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 382 (showing top): MODULE_93, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION, TANG_SENESCENCE_TP53_TARGETS_UP, MAHAJAN_RESPONSE_TO_IL1A_DN, SMITH_TERT_TARGETS_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, KEGG_HISTIDINE_METABOLISM, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, BLALOCK_ALZHEIMERS_DISEASE_UP, KEGG_LYSINE_DEGRADATION, GOBP_EPIDERMIS_DEVELOPMENT

GO Biological Process (9): aldehyde metabolic process (GO:0006081), fatty acid metabolic process (GO:0006631), sesquiterpenoid metabolic process (GO:0006714), central nervous system development (GO:0007417), peripheral nervous system development (GO:0007422), epidermis development (GO:0008544), phytol metabolic process (GO:0033306), hexadecanal metabolic process (GO:0046458), lipid metabolic process (GO:0006629)

GO Molecular Function (11): 3-chloroallyl aldehyde dehydrogenase activity (GO:0004028), aldehyde dehydrogenase (NAD+) activity (GO:0004029), protein homodimerization activity (GO:0042803), long-chain-alcohol oxidase activity (GO:0046577), long-chain fatty aldehyde dehydrogenase (NAD+) activity (GO:0050061), medium-chain fatty aldehyde dehydrogenase (NAD+) activity (GO:0052814), farnesal dehydrogenase (NAD+) activity (GO:0120553), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620), fatty aldehyde dehydrogenase (NAD+) activity (GO:0102673)

GO Cellular Component (8): cytoplasm (GO:0005737), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), intracellular membrane-bounded organelle (GO:0043231), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
RHO GTPase cycle	2
Protein localization	2
Peroxisomal lipid metabolism	1
Sphingolipid metabolism	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nervous system development	2
system development	2
fatty aldehyde dehydrogenase (NAD+) activity	2
aldehyde dehydrogenase (NAD+) activity	2
intracellular anatomical structure	2
cytoplasm	2
metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
terpenoid metabolic process	1
tissue development	1
diterpenoid metabolic process	1
primary alcohol metabolic process	1
fatty alcohol metabolic process	1
aldehyde metabolic process	1
primary metabolic process	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	1
aldehyde dehydrogenase [NAD(P)+] activity	1
identical protein binding	1
protein dimerization activity	1
oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor	1
binding	1
catalytic activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors	1
microbody	1
peroxisome	1
microbody membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane-bounded organelle	1
intracellular organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

4108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDH3A2	AGMO	Q6ZNB7	949
ALDH3A2	FA2H	Q7L5A8	777
ALDH3A2	ADH4	P08319	616
ALDH3A2	ALDH18A1	P54886	607
ALDH3A2	ADH6	P28332	576
ALDH3A2	FAR1	Q8WVX9	572
ALDH3A2	ALDH16A1	Q8IZ83	556
ALDH3A2	ADH7	P40394	554
ALDH3A2	ACSL1	P33121	547
ALDH3A2	ECI2	O75521	540
ALDH3A2	AKR1B1	P15121	532
ALDH3A2	ADH5	P11766	523
ALDH3A2	AKR1A1	P14550	511
ALDH3A2	HSD17B4	P51659	508
ALDH3A2	EHHADH	Q08426	504

IntAct

222 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
SPTLC1	SPTLC2	psi-mi:“MI:0914”(association)	0.680
SPTLC2	SPTLC1	psi-mi:“MI:0914”(association)	0.680
CDS1	CDS2	psi-mi:“MI:0914”(association)	0.670
ALDH3A1	RCCD1	psi-mi:“MI:0914”(association)	0.640
RELA	NFKBIE	psi-mi:“MI:0914”(association)	0.620
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SLC9A6	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.530
ALDH3A1	IGLL5	psi-mi:“MI:0914”(association)	0.530
HEATR1	DUSP14	psi-mi:“MI:0914”(association)	0.530
ARMC6	SLC27A2	psi-mi:“MI:0914”(association)	0.530
SLC9A6	ALDH3A2	psi-mi:“MI:0914”(association)	0.530
SLC9A6	IFNGR1	psi-mi:“MI:0914”(association)	0.530
HSPA8	ARHGEF10	psi-mi:“MI:2364”(proximity)	0.480
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
TPTE	NOP56	psi-mi:“MI:2364”(proximity)	0.420
Stag2	PPP1R12A	psi-mi:“MI:0915”(physical association)	0.400
Tubg1	BDP1	psi-mi:“MI:0914”(association)	0.350
Tnpo1	CCHCR1	psi-mi:“MI:0914”(association)	0.350
Prkci	LLGL2	psi-mi:“MI:0914”(association)	0.350
Atp7a	RTL8C	psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
ATL3	SNX14	psi-mi:“MI:0914”(association)	0.350
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (443): ALDH3A2 (Affinity Capture-MS), ALDH3A2 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), DDX20 (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), TBC1D15 (Affinity Capture-MS), FANCD2 (Affinity Capture-MS), SAAL1 (Affinity Capture-MS), KIAA1524 (Affinity Capture-MS), HEATR1 (Affinity Capture-MS), GEMIN4 (Affinity Capture-MS), INTS12 (Affinity Capture-MS), XPO4 (Affinity Capture-MS), TSC2 (Affinity Capture-MS), ATR (Affinity Capture-MS)

ESM2 similar proteins: A1VTR9, A3RF36, A4G8E9, A5G906, A6VZ85, A9LYY9, B5EEI4, B5FJX5, B5R4S6, B5R5R9, B8FUB6, B9M0D6, C0QLF1, C6BSC1, C6E7L9, E9Q3E1, J3QMK6, O14293, O93344, O94788, P11883, P12693, P30838, P30839, P30907, P39616, P42269, P46329, P47739, P47740, P51648, P54115, P81178, Q02XW0, Q24XR6, Q2YBP9, Q311G6, Q54DG1, Q5RF60, Q5XI42

Diamond homologs: A0A7W3RCJ3, A3M365, A3RF36, A4JJG5, A4XPI6, A7FKL5, A9AN00, B0RNV0, B0V944, B0VST2, B2FQ90, B2HV80, B4SHW0, B7GYG4, B7I896, C6KEM4, C7A2A0, D5E1S7, E9Q3E1, F6IBC7, J3QMK6, O04895, O05619, O24174, O59808, O74187, O86447, P08157, P0DPF0, P11883, P12693, P17202, P25553, P30838, P30839, P30840, P30907, P32872, P39616, P40108

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FBXL12	“down-regulates quantity by destabilization”	ALDH3A2	binding
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	ALDH3A2	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 238 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Signaling by ERBB2 ECD mutants	5	21.8×	2e-04
GRB2 events in ERBB2 signaling	5	20.6×	2e-04
SHC1 events in ERBB2 signaling	6	18.5×	9e-05
Signaling by ERBB2 TMD/JMD mutants	6	18.5×	9e-05
CD209 (DC-SIGN) signaling	5	16.9×	4e-04
Signaling by ERBB2 KD Mutants	6	16.5×	2e-04
Downstream signal transduction	6	14.8×	2e-04
DAP12 signaling	5	12.0×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	7	14.5×	1e-04
autophagosome maturation	8	13.8×	4e-05
cell surface receptor protein tyrosine kinase signaling pathway	14	12.0×	2e-08
autophagosome assembly	8	8.8×	7e-04
protein autophosphorylation	11	7.9×	5e-05
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	17	6.6×	8e-07
positive regulation of MAPK cascade	12	4.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

728 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	82
Likely pathogenic	80
Uncertain significance	172
Likely benign	289
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068678	NM_000382.3(ALDH3A2):c.538del (p.His180fs)	Pathogenic
1068916	NM_000382.3(ALDH3A2):c.286_296del (p.Tyr96fs)	Pathogenic
1069337	NC_000017.10:g.(?19552275)(19555955_?)del	Pathogenic
1069338	NC_000017.10:g.(?19552275)(19561185_?)del	Pathogenic
1072502	NM_000382.3(ALDH3A2):c.1264C>T (p.Gln422Ter)	Pathogenic
1174486	NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)	Pathogenic
1322990	NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)	Pathogenic
1322996	NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)	Pathogenic
1370055	NM_000382.3(ALDH3A2):c.28_29dup (p.Gln10fs)	Pathogenic
1371896	NC_000017.10:g.(?19564430)(19566822_?)del	Pathogenic
1401504	NM_000382.3(ALDH3A2):c.1108_1111del (p.Leu370fs)	Pathogenic
1407166	NM_000382.3(ALDH3A2):c.1087_1090del (p.Val363fs)	Pathogenic
1460470	NM_000382.3(ALDH3A2):c.805del (p.Tyr269fs)	Pathogenic
1636	NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)	Pathogenic
1637	NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)	Pathogenic
1639	NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)	Pathogenic
1641	NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)	Pathogenic
1642	NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)	Pathogenic
1644	NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	Pathogenic
1685517	NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)	Pathogenic
188768	NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)	Pathogenic
189079	NM_000382.3(ALDH3A2):c.798+5G>A	Pathogenic
189163	NM_000382.3(ALDH3A2):c.471+1del	Pathogenic
189187	NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)	Pathogenic
1936485	NM_000382.3(ALDH3A2):c.985C>T (p.Gln329Ter)	Pathogenic
1997162	NM_000382.3(ALDH3A2):c.1176del (p.Phe392fs)	Pathogenic
2102212	NM_000382.3(ALDH3A2):c.292C>T (p.Gln98Ter)	Pathogenic
2103941	NM_000382.3(ALDH3A2):c.715del (p.Gln239fs)	Pathogenic
2151163	NM_000382.3(ALDH3A2):c.1384dup (p.Glu462fs)	Pathogenic
2416519	NM_000382.3(ALDH3A2):c.1303_1314delinsAGTTGGG (p.Ala435fs)	Pathogenic

SpliceAI

2205 predictions. Top by Δscore:

Variant	Effect	Δscore
17:19649120:GCAAG:G	donor_gain	1.0000
17:19649121:CAAGG:C	donor_loss	1.0000
17:19649123:AG:A	donor_gain	1.0000
17:19649124:GG:G	donor_gain	1.0000
17:19649124:GGTA:G	donor_loss	1.0000
17:19649125:G:GG	donor_gain	1.0000
17:19649125:GT:G	donor_loss	1.0000
17:19652546:GGAA:G	acceptor_gain	1.0000
17:19652630:CAGG:C	donor_loss	1.0000
17:19652633:G:GA	donor_loss	1.0000
17:19652634:T:A	donor_loss	1.0000
17:19661125:A:AG	acceptor_gain	1.0000
17:19661125:AG:A	acceptor_gain	1.0000
17:19661126:G:GG	acceptor_gain	1.0000
17:19661126:GG:G	acceptor_gain	1.0000
17:19661126:GGA:G	acceptor_gain	1.0000
17:19661198:GATAC:G	donor_gain	1.0000
17:19661264:CATAG:C	donor_loss	1.0000
17:19661265:ATAGG:A	donor_loss	1.0000
17:19661266:TAGG:T	donor_loss	1.0000
17:19661270:T:A	donor_loss	1.0000
17:19663331:A:AG	acceptor_gain	1.0000
17:19663332:G:GG	acceptor_gain	1.0000
17:19663332:GC:G	acceptor_gain	1.0000
17:19663332:GCC:G	acceptor_gain	1.0000
17:19663332:GCCC:G	acceptor_gain	1.0000
17:19663332:GCCCC:G	acceptor_gain	1.0000
17:19663496:TAAGG:T	donor_loss	1.0000
17:19663498:AGGT:A	donor_loss	1.0000
17:19663499:GGTAA:G	donor_loss	1.0000

AlphaMissense

3184 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:19663389:T:C	F333L	0.996
17:19663391:T:A	F333L	0.996
17:19663391:T:G	F333L	0.996
17:19663482:T:C	F364L	0.995
17:19663484:T:A	F364L	0.995
17:19663484:T:G	F364L	0.995
17:19656484:C:A	A197D	0.994
17:19657747:G:C	R228P	0.994
17:19664978:A:C	S380R	0.994
17:19664980:T:A	S380R	0.994
17:19664980:T:G	S380R	0.994
17:19671729:G:T	G406W	0.994
17:19671730:G:A	G406E	0.994
17:19651729:T:A	N112K	0.993
17:19651729:T:G	N112K	0.993
17:19656472:T:A	V193D	0.993
17:19656511:T:C	L206P	0.993
17:19656515:A:C	E207D	0.993
17:19656515:A:T	E207D	0.993
17:19656528:A:C	S212R	0.993
17:19656530:T:A	S212R	0.993
17:19656530:T:G	S212R	0.993
17:19656536:T:G	C214W	0.993
17:19663402:T:C	L337P	0.993
17:19651724:T:A	W111R	0.991
17:19651724:T:C	W111R	0.991
17:19652566:G:C	K135N	0.991
17:19652566:G:T	K135N	0.991
17:19656517:T:C	L208P	0.991
17:19657777:G:T	G238V	0.991

dbSNP variants (sampled 300 via entrez): RS1000283688 (17:19652238 C>T), RS1000307602 (17:19663244 T>A,C,G), RS1000414888 (17:19675325 C>A,T), RS1000515571 (17:19646266 G>A,T), RS1000615792 (17:19670567 T>C), RS1000685296 (17:19669218 G>A), RS1000786422 (17:19656073 T>A), RS1000872933 (17:19676396 G>A), RS1000893263 (17:19657044 A>G), RS1000925475 (17:19676213 A>G), RS1001042432 (17:19670744 G>A), RS1001420558 (17:19663044 T>C), RS1001421230 (17:19677357 G>A), RS1001653687 (17:19670121 G>A), RS1001740936 (17:19669451 A>G)

Disease associations

OMIM: gene MIM:609523 | disease phenotypes: MIM:270200

GenCC curated gene-disease

Disease	Classification	Inheritance
Sjogren-Larsson syndrome	Definitive	Autosomal recessive

Mondo (2): Sjogren-Larsson syndrome (MONDO:0010031), cerebral palsy (MONDO:0006497)

Orphanet (1): Sjögren-Larsson syndrome (Orphanet:816)

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000483	Astigmatism
HP:0000488	Retinopathy
HP:0000545	Myopia
HP:0000551	Color vision defect
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000682	Abnormal dental enamel morphology
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0001025	Urticaria
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001264	Spastic diplegia
HP:0001371	Flexion contracture
HP:0001387	Joint stiffness
HP:0001595	Abnormal hair morphology
HP:0001597	Abnormal nail morphology
HP:0002167	Abnormal speech pattern
HP:0002313	Spastic paraparesis
HP:0002650	Scoliosis
HP:0002652	Skeletal dysplasia
HP:0002808	Kyphosis
HP:0002942	Thoracic kyphosis
HP:0003577	Congenital onset
HP:0004322	Short stature

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002547	Cerebral Palsy	C10.228.140.140.254
D016111	Sjogren-Larsson Syndrome	C16.131.831.512.723; C16.320.565.398.641.723; C16.320.850.820; C16.614.492.723; C17.800.428.333.723; C17.800.804.512.723; C17.800.827.820; C18.452.584.563.641.723; C18.452.648.398.641.723

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295779 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4621031	ALDH3A2		0.00	0

CTD chemical–gene interactions

89 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	5
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	4
Cyclosporine	decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Acetaminophen	decreases expression	3
Benzo(a)pyrene	increases expression, increases methylation, decreases expression	3
bisphenol A	decreases expression, increases expression	2
lead acetate	increases expression, affects cotreatment, decreases expression	2
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment, affects expression, affects oxidation	2
Arsenic Trioxide	decreases response to substance, increases expression	2
Acrolein	affects cotreatment, affects expression, affects oxidation, decreases expression, increases abundance	2
Cadmium	increases abundance, increases expression	2
Ozone	affects oxidation, decreases expression, increases abundance, affects cotreatment, affects expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
hydroxyethyl methacrylate	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, affects expression, affects oxidation, increases abundance	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	decreases expression	1
arsenite	increases abundance, increases expression	1
sulforaphane	increases expression	1
cobaltous chloride	decreases expression	1
tanshinone	decreases expression	1
ochratoxin A	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118581	Binding	Binding affinity to ALDH3A2 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 3 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1JF	Abcam HeLa ALDH3A2 KO	Cancer cell line	Female
CVCL_HQ03	GM10640	Finite cell line	Female
CVCL_HQ04	GM10642	Finite cell line	Male
CVCL_N151	GM10641	Finite cell line	Female
CVCL_SC22	HAP1 ALDH3A2 (-) 1	Cancer cell line	Male
CVCL_XL25	HAP1 ALDH3A2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT03445650	PHASE3	COMPLETED	RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
NCT01249417	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Study
NCT01251380	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644	PHASE3	COMPLETED	The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608	PHASE3	COMPLETED	Magnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736	PHASE3	UNKNOWN	Targeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520	PHASE3	COMPLETED	A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434	PHASE3	COMPLETED	Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884	PHASE3	COMPLETED	Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02839785	PHASE3	TERMINATED	Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341	PHASE3	UNKNOWN	Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871	PHASE3	COMPLETED	Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A