PEX11B

Summary

PEX11B (peroxisomal biogenesis factor 11 beta, HGNC:8853) is a protein-coding gene on chromosome 1q21.1, encoding Peroxisomal membrane protein 11B (O96011). Involved in peroxisomal proliferation.

The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene.

Source: NCBI Gene 8799 — RefSeq curated summary.

At a glance

• Gene–disease (curated): peroxisome biogenesis disorder (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 264 total — 4 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 106
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_003846

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8853
Approved symbol	PEX11B
Name	peroxisomal biogenesis factor 11 beta
Location	1q21.1
Locus type	gene with protein product
Status	Approved
Aliases	PEX11beta, PEX11β
Ensembl gene	ENSG00000131779
Ensembl biotype	protein_coding
OMIM	603867
Entrez	8799

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000369306, ENST00000428634, ENST00000537888, ENST00000863189, ENST00000968135, ENST00000968136

RefSeq mRNA: 2 — MANE Select: NM_003846 NM_001184795, NM_003846

CCDS: CCDS72870, CCDS72871

Canonical transcript exons

ENST00000369306 — 4 exons

Exon	Start	End
ENSE00000787454	145916817	145917018
ENSE00000826055	145917701	145917816
ENSE00001449452	145911350	145912566
ENSE00001449455	145918633	145918717

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 93.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4715 / max 109.2838, expressed in 1808 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14154	16.3705	1808
14153	0.1010	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	93.76	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.17	gold quality
medial globus pallidus	UBERON:0002477	92.91	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.75	gold quality
esophagus squamous epithelium	UBERON:0006920	92.74	gold quality
palpebral conjunctiva	UBERON:0001812	92.55	gold quality
epithelium of esophagus	UBERON:0001976	92.46	gold quality
endometrium epithelium	UBERON:0004811	92.37	gold quality
frontal cortex	UBERON:0001870	92.28	gold quality
right frontal lobe	UBERON:0002810	92.05	gold quality
cingulate cortex	UBERON:0003027	92.05	gold quality
neocortex	UBERON:0001950	92.01	gold quality
nucleus accumbens	UBERON:0001882	92.00	gold quality
anterior cingulate cortex	UBERON:0009835	91.98	gold quality
mucosa of transverse colon	UBERON:0004991	91.93	gold quality
cerebral cortex	UBERON:0000956	91.68	gold quality
caudate nucleus	UBERON:0001873	91.67	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.47	gold quality
telencephalon	UBERON:0001893	91.38	gold quality
esophagus mucosa	UBERON:0002469	91.36	gold quality
superior frontal gyrus	UBERON:0002661	91.35	gold quality
middle temporal gyrus	UBERON:0002771	91.27	gold quality
orbitofrontal cortex	UBERON:0004167	91.26	gold quality
gastrocnemius	UBERON:0001388	91.20	gold quality
putamen	UBERON:0001874	91.20	gold quality
hypothalamus	UBERON:0001898	91.19	gold quality
forebrain	UBERON:0001890	91.08	gold quality
amygdala	UBERON:0001876	90.98	gold quality
sperm	CL:0000019	90.89	gold quality
muscle of leg	UBERON:0001383	90.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.69
E-MTAB-7249	no	248.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting PEX11B, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4500	99.99	72.72	2367
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-98-5P	99.98	72.33	1787
HSA-MIR-1229-3P	99.97	66.49	906
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-8067	99.86	69.59	2260
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4672	99.50	71.58	2893

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 11)

• Fis1 plays important roles in peroxisome division and maintenance of peroxisome morphology in mammalian cells, possibly in a concerted manner with Pex11pbeta and DLP1. (PMID:17408615)
• coordinates peroxisome membrane proliferation and maintenance (PMID:20826455)
• Excluding mutations in all PEX genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11beta gene. (PMID:22581968)
• A new study identifies the first patient with a mutation in PEX11beta.These new findings widen the spectrum of clinical and cellular phenotypes of peroxisome biogenesis disorders. (PMID:22581969)
• Self-interaction of human Pex11beta during peroxisomal growth and division regulates its membrane deforming activity in conjunction with membrane lipids. (PMID:23308220)
• Next generation sequencing identified biallelic loss-of-function mutations in PEX11B as the underlying cause of disease in each case (PEX11B c.235C>T p.(Arg79Ter) homozygous; PEX11B c.136C>T p.(Arg46Ter) homozygous; PEX11B c.595C>T p.(Arg199Ter) heterozygous, PEX11B ex1-3 del heterozygous). (PMID:28129423)
• Authors provide evidence that PXMP2 is not essential for H2O2 permeation across the peroxisomal membrane, neither in control cells nor in cells lacking PEX11B, a peroxisomal membrane-shaping protein whose yeast homologue facilitates the permeation of molecules up to 400Da. (PMID:31129117)
• PEX11beta and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor. (PMID:35678336)
• Genetic defects in peroxisome morphogenesis (Pex11beta, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism. (PMID:36522796)
• Two siblings with PEX11B-related peroxisome biogenesis disorder. (PMID:38423277)
• PPARgamma dependent PEX11beta counteracts the suppressive role of SIRT1 on neural differentiation of HESCs. (PMID:38753762)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pex11b	ENSDARG00000069147
mus_musculus	Pex11b	ENSMUSG00000028102
rattus_norvegicus	Pex11b	ENSRNOG00000021216
drosophila_melanogaster	Pex11ab	FBGN0034058

Paralogs (1): PEX11A (ENSG00000166821)

Protein

Protein identifiers

Peroxisomal membrane protein 11B — O96011 (reviewed: O96011)

Alternative names: Peroxin-11B, Peroxisomal biogenesis factor 11B, Protein PEX11 homolog beta

All UniProt accessions (2): O96011, H7C3V6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in peroxisomal proliferation. May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. Promotes membrane protrusion and elongation on the peroxisomal surface.

Subunit / interactions. Homodimer. Heterodimer with PEX11G. Interacts with PEX19. Interacts with FIS1.

Subcellular location. Peroxisome membrane.

Disease relevance. Peroxisome biogenesis disorder 14B (PBD14B) [MIM:614920] An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peroxin-11 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O96011-1	1	yes
O96011-2	2

RefSeq proteins (2): NP_001171724, NP_003837* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008733	PEX11	Family

Pfam: PF05648

UniProt features (8 total): region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O96011-F1	90.12	0.77

Functional residue map

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

Post-translational modifications (1): 43

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9603798	Class I peroxisomal membrane protein import

MSigDB gene sets: 329 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, BROWNE_HCMV_INFECTION_6HR_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MORF_RAB5A, FISCHER_G1_S_CELL_CYCLE, MORF_PSMC2, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_ORGANELLE_FISSION, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GCM_NF2, GOCC_MICROBODY_MEMBRANE, DANG_BOUND_BY_MYC, MODULE_95, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN

GO Biological Process (4): peroxisome organization (GO:0007031), signal transduction (GO:0007165), peroxisome fission (GO:0016559), regulation of peroxisome size (GO:0044375)

GO Molecular Function (3): identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), membrane (GO:0016020), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
organelle organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
peroxisome organization	1
organelle fission	1
regulation of cellular component size	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
nuclear lumen	1
intracellular membrane-bounded organelle	1
microbody	1
peroxisome	1
microbody membrane	1
cellular_component	1

Protein interactions and networks

STRING

1204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PEX11B	PEX11G	Q96HA9	968
PEX11B	PEX5	P50542	926
PEX11B	PEX2	P28328	924
PEX11B	PEX19	P40855	890
PEX11B	PEX16	Q9Y5Y5	889
PEX11B	FIS1	Q9Y3D6	869
PEX11B	PEX3	P56589	859
PEX11B	DNM1L	O00429	835
PEX11B	PEX10	O60683	834
PEX11B	PEX6	Q13608	834
PEX11B	PEX12	O00623	829
PEX11B	PEX13	Q92968	810
PEX11B	PEX7	O00628	794
PEX11B	ABCD3	P28288	733
PEX11B	PEX14	O75381	730

IntAct

68 interactions, top by confidence:

A	B	Type	Score
PEX11B	PEX19	psi-mi:“MI:0915”(physical association)	0.950
PEX19	PEX11B	psi-mi:“MI:2364”(proximity)	0.950
PEX19	PEX11B	psi-mi:“MI:0915”(physical association)	0.950
PEX11B	PEX19	psi-mi:“MI:2364”(proximity)	0.950
PEX11B	PEX19	psi-mi:“MI:0407”(direct interaction)	0.950
PEX19	PEX11B	psi-mi:“MI:0407”(direct interaction)	0.950

BioGRID (59): PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX19 (FRET), PEX11B (Proximity Label-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-MS), PEX11B (Affinity Capture-Luminescence), PEX11B (Proximity Label-MS)

ESM2 similar proteins: A0A3Q2HW92, A1A5B4, A2ADF7, A5D787, A6NFX1, A6NGC4, D3ZVU9, F1PZV2, O96011, P19258, Q04671, Q13286, Q148K5, Q3T0A0, Q3T9M1, Q3U481, Q3UGX3, Q501J2, Q567V2, Q5BK62, Q5JZQ7, Q5R9A1, Q5RFI0, Q5U419, Q5ZJX0, Q60HH0, Q66GV0, Q6DGV7, Q6NUT3, Q6UXD7, Q6ZMD2, Q7Z403, Q8BMT9, Q8CE47, Q8CHK3, Q8TB61, Q8TBR7, Q8TCT7, Q8VC74, Q8VIK2

Diamond homologs: O70597, O75192, O96011, Q0VCP2, Q148K5, Q5RFI0, Q9Z210, Q9Z211

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	9
Uncertain significance	134
Likely benign	98
Benign	5

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1444883	NC_000001.10:g.(?145516401)(145518292_?)del	Pathogenic
1992874	NM_003846.3(PEX11B):c.63_64del (p.Gln22fs)	Pathogenic
2041842	NM_003846.3(PEX11B):c.108dup (p.Ala37fs)	Pathogenic
39723	NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter)	Pathogenic
1705179	NM_003846.3(PEX11B):c.275del (p.Asn92fs)	Likely pathogenic
2584929	NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)	Likely pathogenic
2692363	NM_003846.3(PEX11B):c.11G>A (p.Trp4Ter)	Likely pathogenic
3362605	NM_003846.3(PEX11B):c.148_149del (p.Ser50fs)	Likely pathogenic
3592175	NM_003846.3(PEX11B):c.278_281del (p.Arg93fs)	Likely pathogenic
3592207	NM_003846.3(PEX11B):c.308del (p.Leu103fs)	Likely pathogenic
3633203	NM_003846.3(PEX11B):c.56+1G>A	Likely pathogenic
375228	NM_003846.2(PEX11B):c.(?-1)(374+1_375-1)del	Likely pathogenic
423557	NM_003846.3(PEX11B):c.466C>T (p.Arg156Ter)	Likely pathogenic

SpliceAI

709 predictions. Top by Δscore:

Variant	Effect	Δscore
1:145917017:G:GG	acceptor_gain	1.0000
1:145917018:A:C	acceptor_loss	1.0000
1:145917018:A:G	acceptor_gain	1.0000
1:145917019:A:AG	acceptor_gain	1.0000
1:145917020:C:G	acceptor_gain	1.0000
1:145917021:A:AG	acceptor_gain	1.0000
1:145917026:T:G	acceptor_gain	1.0000
1:145917027:A:G	acceptor_gain	1.0000
1:145917028:A:AG	acceptor_gain	1.0000
1:145917694:G:GG	donor_gain	1.0000
1:145917698:G:GG	donor_gain	1.0000
1:145917698:G:T	donor_loss	1.0000
1:145917699:CGTA:C	donor_loss	1.0000
1:145917700:GC:G	donor_gain	1.0000
1:145917700:GCG:G	donor_gain	1.0000
1:145917701:AGC:A	donor_gain	1.0000
1:145917702:AAGC:A	donor_gain	1.0000
1:145917703:AAAGC:A	donor_gain	1.0000
1:145917815:G:GG	acceptor_gain	1.0000
1:145917815:GG:G	acceptor_gain	1.0000
1:145917816:A:AG	acceptor_gain	1.0000
1:145917816:AG:A	acceptor_gain	1.0000
1:145917817:TAG:T	acceptor_loss	1.0000
1:145917818:CTAG:C	acceptor_loss	1.0000
1:145916814:G:A	donor_loss	0.9900
1:145916815:G:GC	donor_loss	0.9900
1:145916817:CAG:C	donor_loss	0.9900
1:145916819:TTCAG:T	donor_loss	0.9900
1:145917017:GT:G	acceptor_gain	0.9900
1:145917017:GTT:G	acceptor_gain	0.9900

AlphaMissense

1617 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:145916892:T:A	D100V	0.999
1:145916836:A:G	W119R	0.998
1:145916836:A:T	W119R	0.998
1:145916881:A:G	W104R	0.998
1:145916881:A:T	W104R	0.998
1:145916893:C:G	D100H	0.998
1:145916979:G:T	A71D	0.998
1:145918633:C:A	R19M	0.998
1:145912213:G:A	S243F	0.997
1:145912225:C:T	G239D	0.997
1:145912279:G:T	P221H	0.997
1:145912531:C:G	R137P	0.997
1:145912533:G:C	S136R	0.997
1:145912533:G:T	S136R	0.997
1:145912535:T:G	S136R	0.997
1:145916892:T:G	D100A	0.997
1:145917706:C:G	R56T	0.997
1:145912291:T:A	D217V	0.996
1:145912291:T:C	D217G	0.996
1:145912549:A:G	L131P	0.996
1:145916888:A:C	N101K	0.996
1:145916888:A:T	N101K	0.996
1:145916893:C:A	D100Y	0.996
1:145916915:A:C	N92K	0.996
1:145916915:A:T	N92K	0.996
1:145916919:A:G	L91P	0.996
1:145916938:A:G	C85R	0.996
1:145916980:C:G	A71P	0.996
1:145917006:C:T	G62D	0.996
1:145917705:T:A	R56S	0.996

dbSNP variants (sampled 300 via entrez): RS1000016438 (1:145916165 T>C), RS1000451297 (1:145915912 C>T), RS1002185165 (1:145915840 G>T), RS1002217652 (1:145915459 G>T), RS1002526922 (1:145914313 G>A), RS1002556565 (1:145914043 G>A), RS1003074831 (1:145920519 C>T), RS1003374254 (1:145919300 C>A,G,T), RS1003450247 (1:145920676 C>A), RS1003877923 (1:145916741 C>A,T), RS1005599930 (1:145915389 T>C), RS1005864907 (1:145913598 C>A), RS1006384680 (1:145920281 T>G), RS1006415009 (1:145914012 C>A), RS1007074508 (1:145914389 C>A)

Disease associations

OMIM: gene MIM:603867 | disease phenotypes: MIM:614920, MIM:214100, MIM:274000

GenCC curated gene-disease

Disease	Classification	Inheritance
peroxisome biogenesis disorder 14B	Definitive	Autosomal recessive
Zellweger spectrum disorders	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
peroxisome biogenesis disorder	Definitive	AR

Mondo (4): peroxisome biogenesis disorder 14B (MONDO:0013967), peroxisome biogenesis disorder (MONDO:0019234), thrombocytopenia-absent radius syndrome (MONDO:0010121), Zellweger spectrum disorders (MONDO:0019609)

Orphanet (3): Neonatal adrenoleukodystrophy (Orphanet:44), Peroxisome biogenesis disorder (Orphanet:79189), Thrombocytopenia-absent radius syndrome (Orphanet:3320)

HPO phenotypes

106 total (30 of 106 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000034	Hydrocele testis
HP:0000047	Hypospadias
HP:0000126	Hydronephrosis
HP:0000157	Abnormality of the tongue
HP:0000174	Abnormal palate morphology
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000260	Wide anterior fontanel
HP:0000268	Dolichocephaly
HP:0000271	Abnormality of the face
HP:0000286	Epicanthus
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000474	Thickened nuchal skin fold
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D015211	Zellweger Syndrome	C06.552.970; C10.228.140.163.100.968; C12.050.351.968.419.978; C12.200.777.419.978; C12.950.419.978; C16.131.077.970; C16.320.565.189.968; C16.320.565.663.970; C18.452.132.100.968; C18.452.648.189.968; C18.452.648.663.970
C536940	Absent radii and thrombocytopenia (supp.)
C536664	Peroxisome biogenesis disorders (supp.)
C531857	Zellweger leukodystrophy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
bisphenol B	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Nickel	decreases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vincristine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00007020	PHASE3	COMPLETED	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT01838941	PHASE3	COMPLETED	Betaine and Peroxisome Biogenesis Disorders
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT03856866	PHASE2	COMPLETED	Hydroxychloroquine Administration for Reduction of Pexophagy
NCT00004442	Not specified	TERMINATED	Study of Bile Acids in Patients With Peroxisomal Disorders
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT01668186	Not specified	RECRUITING	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
NCT03440905	Not specified	COMPLETED	Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
NCT06190626	Not specified	RECRUITING	Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder