ASPNAT

Summary

ASPNAT (aspartate N-acetyltransferase, HGNC:26742) is a protein-coding gene on chromosome 4p16.3, encoding N-acetylaspartate synthetase (Q8N9F0). Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA.

This gene encodes a membrane-associated N-acetyltransferase that catalyzes the synthesis of N-acetylaspartate (NAA) from aspartate and acetyl-CoA. NAA is abundant in the nervous system where it functions as a key metabolite, playing a role in metabolism and myelination. Outside of the nervous system, this gene is also highly expressed in adipocytes where it has been implicated in lipid synthesis and turnover. Mutations in this gene may be associated with N-acetylaspartate deficiency.

Source: NCBI Gene 339983 — RefSeq curated summary.

At a glance

• Gene–disease (curated): N-acetylaspartate deficiency (Limited, ClinGen)
• Clinical variants (ClinVar): 84 total
• Phenotypes (HPO): 18
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_178557

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26742
Approved symbol	ASPNAT
Name	aspartate N-acetyltransferase
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37478, Hcml3, Shati
Ensembl gene	ENSG00000185818
Ensembl biotype	protein_coding
OMIM	610647
Entrez	339983

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000423729

RefSeq mRNA: 1 — MANE Select: NM_178557 NM_178557

CCDS: CCDS3359

Canonical transcript exons

ENST00000423729 — 3 exons

Exon	Start	End
ENSE00001683427	2059327	2059887
ENSE00001839717	2063760	2069089
ENSE00003539242	2060998	2061162

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 97.90.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8393 / max 229.9867, expressed in 849 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46597	3.0595	657
46596	1.1349	530
46599	0.2865	114
46598	0.1607	76
46595	0.1291	60
46594	0.0374	20
203086	0.0313	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	97.90	gold quality
cerebellar vermis	UBERON:0004720	96.90	silver quality
lateral globus pallidus	UBERON:0002476	96.83	gold quality
parietal lobe	UBERON:0001872	96.52	gold quality
postcentral gyrus	UBERON:0002581	96.41	gold quality
putamen	UBERON:0001874	96.19	gold quality
right frontal lobe	UBERON:0002810	96.14	gold quality
endothelial cell	CL:0000115	96.10	gold quality
ventral tegmental area	UBERON:0002691	96.02	gold quality
nucleus accumbens	UBERON:0001882	95.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.84	gold quality
superior frontal gyrus	UBERON:0002661	95.61	gold quality
pons	UBERON:0000988	95.55	gold quality
caudate nucleus	UBERON:0001873	95.52	gold quality
globus pallidus	UBERON:0001875	95.32	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.26	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.24	gold quality
superior vestibular nucleus	UBERON:0007227	95.18	gold quality
anterior cingulate cortex	UBERON:0009835	95.08	gold quality
medulla oblongata	UBERON:0001896	95.05	gold quality
medial globus pallidus	UBERON:0002477	95.05	gold quality
amygdala	UBERON:0001876	94.96	gold quality
occipital lobe	UBERON:0002021	94.83	gold quality
temporal lobe	UBERON:0001871	94.31	gold quality
primary visual cortex	UBERON:0002436	94.14	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.07	gold quality
substantia nigra pars compacta	UBERON:0001965	93.95	gold quality
Ammon’s horn	UBERON:0001954	93.87	gold quality
inferior vagus X ganglion	UBERON:0005363	93.68	gold quality
subthalamic nucleus	UBERON:0001906	93.43	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	210.04
E-ANND-3	no	2.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

235 targeting ASPNAT, 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-3120-5P	100.00	65.56	965
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4715-3P	99.98	66.03	670
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-6888-3P	99.97	65.95	1170
HSA-MIR-548AN	99.97	70.91	2817

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• Results indicated that NAT8L, but not NAT14, catalysed the synthesis of NAA from L-aspartate and acetyl-CoA. (PMID:19807691)
• The aim of the present study was to determine which regions of the protein are important for its catalytic activity and its subcellular localization. (PMID:21936773)
• Nat8l impacts on the brown adipogenic phenotype (PMID:24155240)
• This study demonistrated that the human NAT8L gene related to reward dependence, a personality trait, and grey matter volume in the caudate nucleus in healthy subjects, suggesting that NAT8L might also affect human personality (PMID:24246274)
• NAA is produced specifically in NSCLC tumors through NAT8L overexpression, and its extracellular secretion can be detected in blood (PMID:26511490)
• Characterization and recombinant expression of the nat8l gene that codes for ANAT. (PMID:26550943)
• Nat8l CpG island methylation ratios were lower in the patients with schizophrenia than in the healthy controls. (PMID:27348532)
• A Single Medical Marker for Diagnosis of Methamphetamine Addiction - DNA Methylation of SHATI/NAT8L Promoter Sites from Patient Blood. (PMID:31924153)
• Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder. (PMID:32612069)
• Hindering NAT8L expression in hepatocellular carcinoma increases cytosolic aspartate delivery that fosters pentose phosphate pathway and purine biosynthesis promoting cell proliferation. (PMID:36580805)
• NAT8L mRNA oxidation is linked to neurodegeneration in multiple sclerosis. (PMID:36882060)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	nat8l	ENSDARG00000077256
mus_musculus	Nat8l	ENSMUSG00000048142
rattus_norvegicus	Nat8l	ENSRNOG00000049351

Paralogs (2): NAT14 (ENSG00000090971), NAT8 (ENSG00000144035)

Protein

Protein identifiers

N-acetylaspartate synthetase — Q8N9F0 (reviewed: Q8N9F0)

Alternative names: Camello-like protein 3, N-acetyltransferase 8-like protein

All UniProt accessions (1): Q8N9F0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA. Promotes dopamine uptake by regulating TNF expression. Attenuates methamphetamine-induced inhibition of dopamine uptake.

Subcellular location. Cytoplasm. Microsome membrane. Mitochondrion membrane. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in brain.

Disease relevance. N-acetylaspartate deficiency (NACED) [MIM:614063] A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria.

Induction. By methamphetamine in brain, via dopamine receptor activation (at protein level).

Similarity. Belongs to the NAT8 family.

RefSeq proteins (1): NP_848652* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000182	GNAT_dom	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR050769	NAT_camello-type	Family

Pfam: PF00583

Enzyme classification (BRENDA):

• EC 2.3.1.17 — aspartate N-acetyltransferase (BRENDA: 5 organisms, 12 substrates, 57 inhibitors, 32 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ACETYL-COA	0.001–0.4	13
L-ASPARTATE	0.09–3.37	11
2,3-DIAMINOSUCCINATE	0.92	1
3-METHYL-L-ASPARTATE	0.36	1
GLUTAMATE	5	1
L-GLUTAMATE	8.6	1

Catalyzed reactions (Rhea), 1 shown:

• L-aspartate + acetyl-CoA = N-acetyl-L-aspartate + CoA + H(+) (RHEA:14165)

UniProt features (5 total): chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9F0-F1	81.36	0.72

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8963693	Aspartate and asparagine metabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 177 (showing top): TTTGTAG_MIR520D, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, AREB6_03, GGGTGGRR_PAX4_03, YY1_02, BRN2_01, TGCTGAY_UNKNOWN, CCTGTGA_MIR513, GOCC_MITOCHONDRIAL_ENVELOPE, COATES_MACROPHAGE_M1_VS_M2_UP, chr4p16, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, NKX22_01, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, WHN_B

GO Biological Process (2): L-amino acid metabolic process (GO:0170033), obsolete aspartate family amino acid metabolic process (GO:0009066)

GO Molecular Function (6): L-aspartate N-acetyltransferase activity (GO:0017188), protein binding (GO:0005515), N-acetyltransferase activity (GO:0008080), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (7): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), endoplasmic reticulum membrane (GO:0005789), mitochondrial membrane (GO:0031966), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoplasm	2
intracellular membrane-bounded organelle	2
mitochondrion	2
organelle membrane	2
amino acid metabolic process	1
carboxylic acid metabolic process	1
L-amino-acid N-acetyltransferase activity	1
binding	1
acetyltransferase activity	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular anatomical structure	1
intracellular organelle lumen	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
mitochondrial envelope	1
endomembrane system	1

Protein interactions and networks

STRING

956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASPNAT	ASPA	P45381	780
ASPNAT	RIMKLB	Q9ULI2	653
ASPNAT	RIMKLA	Q8IXN7	603
ASPNAT	NAT14	Q8WUY8	533
ASPNAT	ESCO1	Q5FWF5	531
ASPNAT	ESCO2	Q56NI9	527
ASPNAT	LARP1	Q6PKG0	464
ASPNAT	PPDPFL	Q8WWR9	462
ASPNAT	ACY3	Q96HD9	457
ASPNAT	NAT9	Q9BTE0	432
ASPNAT	ACSS2	Q9NR19	410
ASPNAT	ACSS1	Q9NUB1	387
ASPNAT	NAA60	Q9H7X0	383
ASPNAT	NAA20	P61599	360
ASPNAT	ZNF805	Q5CZA5	358

IntAct

14 interactions, top by confidence:

A	B	Type	Score
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
NAT8L	KIAA0232	psi-mi:“MI:0915”(physical association)	0.590
PEX19	NAT8L	psi-mi:“MI:0915”(physical association)	0.560
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
TSPAN5	KLHL2	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
ZDHHC12	NBAS	psi-mi:“MI:0914”(association)	0.350
TRPV3	MMP15	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC7A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
NAT8L	PEX19	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): NAT8L (Affinity Capture-MS), FLNC (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), FAT3 (Affinity Capture-MS), NAT8L (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), NAT8L (Two-hybrid), NAT8L (Affinity Capture-RNA), NAT8L (Affinity Capture-MS), NAT8L (Affinity Capture-MS), NAT8L (Affinity Capture-MS), NAT8L (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), NAT8L (Affinity Capture-MS), NAT8L (Affinity Capture-MS)

ESM2 similar proteins: A2AA28, A4FV42, A4FV98, A6NDG6, D3YWP0, D3ZVU9, O15315, O35719, O70277, O75382, O94759, P21964, P57775, P81799, Q2TBS1, Q3UGX3, Q4R3I0, Q5E9V4, Q5H879, Q5RJL2, Q5SUV1, Q6DC64, Q7Z624, Q86WI3, Q86XA0, Q8BNV1, Q8C436, Q8CIW5, Q8IZ69, Q8N8L6, Q8N9F0, Q8VCX6, Q8WXB1, Q96AZ1, Q96FB5, Q96RR1, Q9BQD7, Q9BRQ3, Q9BUU2, Q9CQL0

Diamond homologs: A4IGD2, A4II32, D3ZVU9, E0CYC6, E0CYR6, O31443, P85118, Q28DI5, Q3UGX3, Q58604, Q66KL0, Q8CHQ9, Q8N9F0, Q9I8W5, Q9JIY6, Q9JIY7, Q9JIY8, Q9JIZ0, Q9QXS4, Q9QXS7, Q9QXS8, Q9QXT3, Q9QXT4, Q9UHE5, Q9UHF3, Q18B70, Q2FEB2, Q2FVN3, Q2YZ47, Q5HDG9, Q6G6T5, Q7A3V0, Q8NV32, Q99RP3, Q08021, O74311, O80438, P07347, P37506, Q03503

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
NAT8L	“down-regulates quantity”	L-aspartate(1-)	“chemical modification”
NAT8L	“down-regulates quantity”	acetyl-CoA(4-)	“chemical modification”
NAT8L	“up-regulates quantity”	N-acetyl-L-aspartate(2-)	“chemical modification”
NAT8L	“up-regulates quantity”	“coenzyme A(4-)”	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	13
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

550 predictions. Top by Δscore:

Variant	Effect	Δscore
4:2060996:A:AG	acceptor_gain	1.0000
4:2060997:G:GG	acceptor_gain	1.0000
4:2060997:GCGCT:G	acceptor_gain	1.0000
4:2061158:GCCCG:G	donor_gain	1.0000
4:2061159:CCCG:C	donor_gain	1.0000
4:2061160:CCGGT:C	donor_loss	1.0000
4:2061161:CG:C	donor_gain	1.0000
4:2061162:GG:G	donor_gain	1.0000
4:2061162:GGT:G	donor_loss	1.0000
4:2061163:G:GG	donor_gain	1.0000
4:2061163:G:T	donor_loss	1.0000
4:2061164:T:A	donor_loss	1.0000
4:2063754:CTGCA:C	acceptor_loss	1.0000
4:2063755:TGCA:T	acceptor_loss	1.0000
4:2063756:GCAG:G	acceptor_loss	1.0000
4:2063757:CA:C	acceptor_loss	1.0000
4:2060551:G:GT	donor_gain	0.9900
4:2060992:CCCCA:C	acceptor_loss	0.9900
4:2060993:CCCAG:C	acceptor_loss	0.9900
4:2060994:CCA:C	acceptor_loss	0.9900
4:2060995:CAG:C	acceptor_loss	0.9900
4:2060996:AGC:A	acceptor_gain	0.9900
4:2060997:G:T	acceptor_loss	0.9900
4:2060997:GC:G	acceptor_gain	0.9900
4:2060997:GCG:G	acceptor_gain	0.9900
4:2060997:GCGC:G	acceptor_gain	0.9900
4:2060998:C:CA	acceptor_gain	0.9900
4:2061160:CCG:C	donor_gain	0.9900
4:2063758:A:AG	acceptor_gain	0.9900
4:2063758:AG:A	acceptor_gain	0.9900

AlphaMissense

1919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:2063801:G:C	G195R	1.000
4:2063802:G:A	G195D	1.000
4:2063811:C:A	A198D	1.000
4:2063847:T:C	L210P	1.000
4:2063856:T:C	M213T	1.000
4:2063856:T:G	M213R	1.000
4:2063892:C:A	A225D	1.000
4:2063904:G:A	G229D	1.000
4:2063921:T:C	F235L	1.000
4:2063923:C:A	F235L	1.000
4:2063923:C:G	F235L	1.000
4:2063982:C:A	A255D	1.000
4:2064008:T:A	F264I	1.000
4:2064008:T:C	F264L	1.000
4:2064008:T:G	F264V	1.000
4:2064009:T:C	F264S	1.000
4:2064010:C:A	F264L	1.000
4:2064010:C:G	F264L	1.000
4:2059792:T:C	I94T	0.999
4:2059794:T:C	F95L	0.999
4:2059795:T:C	F95S	0.999
4:2059796:C:A	F95L	0.999
4:2059796:C:G	F95L	0.999
4:2059803:G:C	G98R	0.999
4:2059803:G:T	G98C	0.999
4:2061123:G:C	D168H	0.999
4:2061123:G:T	D168Y	0.999
4:2061124:A:C	D168A	0.999
4:2061124:A:G	D168G	0.999
4:2061124:A:T	D168V	0.999

dbSNP variants (sampled 300 via entrez): RS1000010097 (4:2067085 C>T), RS1000192836 (4:2060158 C>G,T), RS1000337597 (4:2061696 G>C), RS1000588621 (4:2065845 C>G), RS1000671508 (4:2062617 TC>T,TCC), RS1000723269 (4:2062776 G>A,C), RS1000794798 (4:2057734 G>A), RS1000948537 (4:2058115 C>T), RS1001183148 (4:2057981 G>A), RS1001516211 (4:2069191 C>T), RS1001538916 (4:2068992 C>G), RS1001738786 (4:2065757 C>T), RS1001800790 (4:2065292 A>G), RS1002024974 (4:2066567 G>C), RS1002084962 (4:2065561 G>A)

Disease associations

OMIM: gene MIM:610647 | disease phenotypes: MIM:614063

GenCC curated gene-disease

Disease	Classification	Inheritance
N-acetylaspartate deficiency	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
N-acetylaspartate deficiency	Limited	AR

Mondo (2): N-acetylaspartate deficiency (MONDO:0013549), microcephaly (MONDO:0001149)

Orphanet (0):

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000252	Microcephaly
HP:0000733	Motor stereotypy
HP:0000736	Short attention span
HP:0000742	Self-mutilation
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0002078	Truncal ataxia
HP:0002136	Broad-based gait
HP:0002317	Unsteady gait
HP:0004322	Short stature
HP:0004325	Decreased body weight
HP:0005484	Secondary microcephaly
HP:0011463	Childhood onset
HP:0012708	Reduced brain N-acetyl aspartate level by MRS
HP:0025336	Delayed ability to sit

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 2.3.1.- Acyltransferases

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
compound 5 [Stecula et al., 2020]	Inhibition	6.4	pKi

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	5
trichostatin A	decreases expression, affects cotreatment	2
Benzo(a)pyrene	increases expression, increases methylation	2
Cisplatin	decreases expression	2
Estradiol	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
beta-lapachone	increases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
pentanal	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Cannabinoids	affects methylation, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Ethinyl Estradiol	decreases expression	1
Fenfluramine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.