ACBD6

Summary

ACBD6 (acyl-CoA binding domain containing 6, HGNC:23339) is a protein-coding gene on chromosome 1q25.2-q25.3, encoding Acyl-CoA-binding domain-containing protein 6 (Q9BR61). Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA.

Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus.

Source: NCBI Gene 84320 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with progressive movement abnormalities (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 205 total — 12 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 80
• MANE Select transcript: NM_032360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23339
Approved symbol	ACBD6
Name	acyl-CoA binding domain containing 6
Location	1q25.2-q25.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC2404
Ensembl gene	ENSG00000230124
Ensembl biotype	protein_coding
OMIM	616352
Entrez	84320

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000367595, ENST00000415414, ENST00000440959, ENST00000475338, ENST00000496993, ENST00000622400, ENST00000642319, ENST00000645415, ENST00000880421, ENST00000880422, ENST00000880423, ENST00000880424, ENST00000937019, ENST00000937020, ENST00000937021, ENST00000955374

RefSeq mRNA: 1 — MANE Select: NM_032360 NM_032360

CCDS: CCDS1339

Canonical transcript exons

ENST00000367595 — 8 exons

Exon	Start	End
ENSE00000922043	180492269	180492365
ENSE00000922044	180495461	180495525
ENSE00001160482	180288230	180288517
ENSE00003459212	180397516	180397605
ENSE00003463100	180314692	180314722
ENSE00003566637	180413366	180413471
ENSE00003584087	180430180	180430262
ENSE00003844100	180502045	180502577

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 96.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3420 / max 320.8463, expressed in 1820 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16105	17.0151	1803
16107	7.7888	1722
16104	3.9387	1626
16103	0.6044	345
16102	0.5907	375
16106	0.4044	189

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.77	gold quality
ganglionic eminence	UBERON:0004023	96.03	gold quality
left testis	UBERON:0004533	95.02	gold quality
right testis	UBERON:0004534	94.73	gold quality
ventricular zone	UBERON:0003053	94.58	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.96	gold quality
cerebellar hemisphere	UBERON:0002245	93.79	gold quality
right ovary	UBERON:0002118	93.75	gold quality
cerebellar cortex	UBERON:0002129	93.67	gold quality
stromal cell of endometrium	CL:0002255	93.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.41	gold quality
left ovary	UBERON:0002119	93.40	gold quality
testis	UBERON:0000473	93.26	gold quality
body of pancreas	UBERON:0001150	93.14	gold quality
tibial nerve	UBERON:0001323	93.05	gold quality
body of uterus	UBERON:0009853	92.87	gold quality
right lobe of thyroid gland	UBERON:0001119	92.55	gold quality
adenohypophysis	UBERON:0002196	92.48	gold quality
cerebellum	UBERON:0002037	92.39	gold quality
endocervix	UBERON:0000458	92.34	gold quality
left lobe of thyroid gland	UBERON:0001120	92.21	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.10	gold quality
popliteal artery	UBERON:0002250	92.08	gold quality
tibial artery	UBERON:0007610	92.08	gold quality
metanephros cortex	UBERON:0010533	92.03	gold quality
left uterine tube	UBERON:0001303	92.02	gold quality
ectocervix	UBERON:0012249	92.02	gold quality
skin of leg	UBERON:0001511	91.90	gold quality
aorta	UBERON:0000947	91.76	gold quality
skin of abdomen	UBERON:0001416	91.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	8.58
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting ACBD6, 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-8063	99.91	69.76	3146
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-4494	97.86	64.93	850
HSA-MIR-483-5P	93.53	65.81	111

Literature-anchored findings (GeneRIF, showing 8)

• ACBD6 is a modular protein that carries an acyl-CoA binding domain at its N terminus and two ankyrin motifs at its C terminus. (PMID:18268358)
• Findings provide evidence that the binding properties of ACBD6 are adapted to prevent its constant saturation by the very abundant C16:0-CoA and protect membrane systems. (PMID:26290611)
• ligand binding properties of the NMT/ACBD6 complex can explain how the NMT reaction can proceed in the presence of the very abundant competitive substrate, C(16)-CoA. (PMID:26621918)
• ACBD6 gene, related to acyl-CoA binding, might play momentous roles in the initiation and development of consecutive Trauma-Induced Sepsis. (PMID:29642183)
• ACBD6 proteins promote N-myristoylation in mammalian cells (PMID:30642881)
• The acyl-CoA binding domain (ACB) and the ankyrin-repeat motifs (ANK) of ACBD6 can perform their functions independently. Interaction of ANK with NMT2 was necessary and sufficient to provide protection. (PMID:32108178)
• Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins. (PMID:36551154)
• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. (PMID:37951597)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	acbd6	ENSDARG00000039456
mus_musculus	Acbd6	ENSMUSG00000033701
rattus_norvegicus	Acbd6	ENSRNOG00000003550
drosophila_melanogaster	anox	FBGN0064116
caenorhabditis_elegans		WBGENE00011731

Protein

Protein identifiers

Acyl-CoA-binding domain-containing protein 6 — Q9BR61 (reviewed: Q9BR61)

All UniProt accessions (2): A0A2R8Y544, Q9BR61

UniProt curated annotations — full annotation on UniProt →

Function. Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristoylation.

Subunit / interactions. Monomer.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Detected in placenta and spleen (at protein level). Detected in placenta, umbilical cord blood, CD34-positive hematopoietic progenitor cells and bone marrow.

Disease relevance. Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) [MIM:620785] An autosomal recessive, progressive disorder characterized by global developmental delay, intellectual disability, significant expressive language impairment, behavioral abnormalities, and movement disorders including dystonia, spasticity and cerebellar ataxia associated with gait impairment. Additional features include facial dysmorphism, oculomotor anomalies, microcephaly, seizures and brain imaging abnormalities. Parkinsonism may develop in older patients. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_115736* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000582	Acyl-CoA-binding_protein	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR035984	Acyl-CoA-binding_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00887, PF12796

UniProt features (24 total): sequence variant 10, helix 4, binding site 3, repeat 2, chain 1, domain 1, turn 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2COP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BR61-F1	77.80	0.43

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 69–73; 95; 114

Post-translational modifications (1): 106

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 311 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, E2F_Q4, E2F_Q4_01, E2F4DP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, E2F1DP1_01, E2F1DP2_01, MODULE_256, REACTOME_MITOCHONDRIAL_FATTY_ACID_BETA_OXIDATION, E2F1_Q3, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_LIVER_CANCER_UP, E2F_Q6_01

GO Biological Process (0):

GO Molecular Function (3): fatty-acyl-CoA binding (GO:0000062), lipid binding (GO:0008289), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
acyl-CoA binding	1
fatty acid derivative binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1430 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACBD6	NMT2	O60551	768
ACBD6	ZNF23	P17027	673
ACBD6	ACBD3	Q9H3P7	563
ACBD6	TMEM53	Q6P2H8	549
ACBD6	ASPHD2	Q6ICH7	526
ACBD6	TMEM184C	Q9NVA4	512
ACBD6	ASCL3	Q9NQ33	510
ACBD6	NMT1	P30419	502
ACBD6	GOLGB1	Q14789	451
ACBD6	B3GLCT	Q6Y288	447
ACBD6	FDXR	P22570	427
ACBD6	TMEM270	Q6UE05	420
ACBD6	IGSF8	Q969P0	418
ACBD6	TKFC	Q3LXA3	413
ACBD6	LRBA	P50851	409

IntAct

33 interactions, top by confidence:

A	B	Type	Score
ACBD6	NMT2	psi-mi:“MI:0914”(association)	0.870
ACBD6	NMT2	psi-mi:“MI:0915”(physical association)	0.870
NMT2	ACBD6	psi-mi:“MI:0915”(physical association)	0.870
NMT2	ACBD6	psi-mi:“MI:0407”(direct interaction)	0.870
ACBD6	NMT2	psi-mi:“MI:0214”(myristoylation reaction)	0.870
ACBD6	NMT2	psi-mi:“MI:0211”(lipid addition)	0.870
NMT1	ACBD6	psi-mi:“MI:0915”(physical association)	0.820
	ACBD6	psi-mi:“MI:0407”(direct interaction)	0.620
	ACBD6	psi-mi:“MI:0407”(direct interaction)	0.560
HES6	TLE1	psi-mi:“MI:0914”(association)	0.550
HSPB1	ACBD6	psi-mi:“MI:0915”(physical association)	0.370
AP5S1	NHERF1	psi-mi:“MI:0914”(association)	0.350
FAM110D	NDUFA2	psi-mi:“MI:0914”(association)	0.350
HOXC8	ANKRD17	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
NMT2	ACBD6	psi-mi:“MI:0915”(physical association)	0.000
ACBD6	NMT1	psi-mi:“MI:0915”(physical association)	0.000
NMT1	ACBD6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): ACBD6 (Two-hybrid), ACBD6 (Two-hybrid), ACBD6 (Two-hybrid), ACBD6 (Affinity Capture-MS), ACBD6 (Affinity Capture-MS), URM1 (Affinity Capture-MS), ATG7 (Affinity Capture-MS), ACBD6 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), CTU1 (Affinity Capture-MS), CTU2 (Affinity Capture-MS), ACBD6 (Affinity Capture-MS), TULP3 (Affinity Capture-MS), C11orf31 (Affinity Capture-MS), NMT1 (Affinity Capture-MS)

ESM2 similar proteins: A1YVX4, A2VDR2, A3AYR1, A3KMI0, A7E2S9, A9JR78, F1REV3, O70145, O73630, O77775, P19838, P19878, P25799, P41230, Q04861, Q15327, Q4V869, Q4V8X4, Q52T38, Q5RJK8, Q5U243, Q5U2S3, Q5U2X2, Q5U312, Q5XUN4, Q62240, Q63369, Q66JD7, Q6F3J0, Q6P158, Q6P5D3, Q6PGC1, Q7SIG6, Q7Z3E5, Q7Z478, Q7ZT11, Q8IWZ3, Q8VHQ3, Q95N27, Q96T49

Diamond homologs: A0FKI7, A2VDR2, A5WV69, O01805, O04066, O09035, O22643, O75521, P07106, P07107, P07108, P11030, P12026, P31786, P31787, P42281, P45882, P45883, P56702, P57752, P61867, P61868, P82934, Q20507, Q2KHT9, Q39315, Q39779, Q3SZF0, Q4V869, Q4V8X4, Q502L1, Q54GC8, Q5FXM5, Q5R7P6, Q5R7V3, Q5RJK8, Q5T8D3, Q5VRM0, Q5XG73, Q5XIC0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	3
Uncertain significance	112
Likely benign	27
Benign	9

Top pathogenic / likely-pathogenic (15)

Variant ID	HGVS	Classification
1177532	NM_032360.4(ACBD6):c.360dup (p.Leu121fs)	Pathogenic
1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	Pathogenic
1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	Pathogenic
189234	NM_033343.4(LHX4):c.452-2A>C	Pathogenic
3242364	NM_032360.4(ACBD6):c.82dup (p.Val28fs)	Pathogenic
3242365	NM_032360.4(ACBD6):c.484_488del (p.Asn161_Ile162insTer)	Pathogenic
3242366	NM_032360.4(ACBD6):c.187G>T (p.Glu63Ter)	Pathogenic
3242367	NM_032360.4(ACBD6):c.474del (p.Asp159fs)	Pathogenic
3247901	NC_000001.10:g.(?179520308)(183559464_?)del	Pathogenic
3363383	NM_032360.4(ACBD6):c.63_64del (p.Asp23fs)	Pathogenic
393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	Pathogenic
7507	NM_033343.4(LHX4):c.628G>C (p.Ala210Pro)	Pathogenic
3997611	NM_032360.4(ACBD6):c.288-1G>A	Likely pathogenic
4056579	NM_033343.4(LHX4):c.461_462del (p.Glu154fs)	Likely pathogenic
4623653	NM_033343.4(LHX4):c.763G>T (p.Glu255Ter)	Likely pathogenic

SpliceAI

2445 predictions. Top by Δscore:

Variant	Effect	Δscore
1:180271377:CA:C	acceptor_loss	1.0000
1:180271378:A:AG	acceptor_gain	1.0000
1:180271378:AGAT:A	acceptor_gain	1.0000
1:180271379:G:GC	acceptor_gain	1.0000
1:180271379:GA:G	acceptor_gain	1.0000
1:180271379:GAT:G	acceptor_gain	1.0000
1:180271379:GATG:G	acceptor_gain	1.0000
1:180271379:GATGA:G	acceptor_gain	1.0000
1:180271527:T:TA	donor_gain	1.0000
1:180271531:ACAGG:A	donor_loss	1.0000
1:180271535:G:GG	donor_gain	1.0000
1:180271536:T:G	donor_loss	1.0000
1:180271834:GGTTT:G	acceptor_gain	1.0000
1:180271956:A:T	donor_gain	1.0000
1:180274307:GACT:G	donor_gain	1.0000
1:180274316:G:T	donor_gain	1.0000
1:180274408:GGAC:G	donor_gain	1.0000
1:180397510:TCTTA:T	donor_loss	1.0000
1:180397511:CTTAC:C	donor_loss	1.0000
1:180397512:TTAC:T	donor_loss	1.0000
1:180397513:TACCT:T	donor_loss	1.0000
1:180397514:A:T	donor_loss	1.0000
1:180397515:CC:C	donor_loss	1.0000
1:180397601:CTACC:C	acceptor_gain	1.0000
1:180413360:TCATA:T	donor_loss	1.0000
1:180413361:CATA:C	donor_loss	1.0000
1:180413362:ATAC:A	donor_loss	1.0000
1:180413363:TA:T	donor_loss	1.0000
1:180413364:A:C	donor_loss	1.0000
1:180413365:C:G	donor_loss	1.0000

AlphaMissense

1855 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:180397580:C:T	C200Y	0.997
1:180314722:C:G	D222H	0.996
1:180397574:C:G	R202P	0.996
1:180397579:A:C	C200W	0.996
1:180397581:A:G	C200R	0.994
1:180397600:C:A	R193S	0.994
1:180397600:C:G	R193S	0.994
1:180314721:T:A	D222V	0.993
1:180397587:A:G	W198R	0.993
1:180397587:A:T	W198R	0.993
1:180288481:A:G	L244P	0.992
1:180314721:T:G	D222A	0.992
1:180397547:A:G	L211S	0.992
1:180413374:C:G	D189H	0.992
1:180492358:A:G	W99R	0.992
1:180492358:A:T	W99R	0.992
1:180397583:G:T	A199D	0.991
1:180288501:A:C	F237L	0.990
1:180288501:A:T	F237L	0.990
1:180288503:A:G	F237L	0.990
1:180288517:G:T	A232D	0.990
1:180314703:G:T	A228D	0.990
1:180314720:G:C	D222E	0.990
1:180314720:G:T	D222E	0.990
1:180397556:A:T	V208D	0.990
1:180397601:C:G	R193T	0.990
1:180413443:A:G	C166R	0.990
1:180397585:C:A	W198C	0.989
1:180397585:C:G	W198C	0.989
1:180413441:G:C	C166W	0.989

dbSNP variants (sampled 300 via entrez): RS1000009716 (1:180328741 T>C), RS1000018657 (1:180425180 G>A,C), RS1000026659 (1:180288141 GATT>G), RS1000045593 (1:180418079 T>A,C), RS1000071812 (1:180379999 T>C), RS1000072446 (1:180323386 C>G,T), RS1000075307 (1:180385375 T>TA), RS1000098705 (1:180413595 T>C), RS1000102946 (1:180386683 C>T), RS1000110555 (1:180369240 C>T), RS1000121959 (1:180337120 T>C), RS1000124916 (1:180294583 TTTAAG>T), RS1000130214 (1:180458748 A>G), RS1000146592 (1:180502339 C>A,T), RS1000163051 (1:180270915 G>A)

Disease associations

OMIM: gene MIM:616352 | disease phenotypes: MIM:613038, MIM:620785, MIM:233710, MIM:262700

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with progressive movement abnormalities	Strong	Autosomal recessive
intellectual disability	Limited	Autosomal recessive

Mondo (5): combined pituitary hormone deficiencies, genetic form (MONDO:0013099), intellectual disability (MONDO:0001071), neurodevelopmental disorder with progressive movement abnormalities (MONDO:0968976), granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 (MONDO:0009310), short stature-pituitary and cerebellar defects-small sella turcica syndrome (MONDO:0009880)

Orphanet (4): Combined pituitary hormone deficiencies, genetic forms (Orphanet:95494), Chronic granulomatous disease (Orphanet:379), Short stature-pituitary and cerebellar defects-small sella turcica syndrome (Orphanet:85442), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

80 total (30 of 80 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000083	Renal insufficiency
HP:0000175	Cleft palate
HP:0000219	Thin upper lip vermilion
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus
HP:0000276	Long face
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000322	Short philtrum
HP:0000445	Wide nose
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000505	Visual impairment
HP:0000506	Telecanthus
HP:0000540	Hypermetropia
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000819	Diabetes mellitus
HP:0000822	Hypertension
HP:0000969	Edema
HP:0001182	Tapered finger

GWAS associations

0 associations (top):

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
C565531	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II (supp.)
C567492	Pituitary Hormone Deficiency, Combined, 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol A	increases expression	1
quercitrin	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Dichromate	increases expression	1
Quercetin	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
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
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders