ABHD17C

Summary

ABHD17C (abhydrolase domain containing 17C, depalmitoylase, HGNC:26925) is a protein-coding gene on chromosome 15q25.1, encoding Alpha/beta hydrolase domain-containing protein 17C (Q6PCB6). Hydrolyzes fatty acids from S-acylated cysteine residues in proteins.

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane.

Source: NCBI Gene 58489 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 39 total — 7 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_021214

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26925
Approved symbol	ABHD17C
Name	abhydrolase domain containing 17C, depalmitoylase
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000136379
Ensembl biotype	protein_coding
OMIM	617944
Entrez	58489

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000258884, ENST00000558464, ENST00000559506, ENST00000560126, ENST00000560609, ENST00000933904

RefSeq mRNA: 1 — MANE Select: NM_021214 NM_021214

CCDS: CCDS45323

Canonical transcript exons

ENST00000258884 — 3 exons

Exon	Start	End
ENSE00002538451	80754151	80755621
ENSE00002556300	80695310	80696019
ENSE00003638441	80749513	80749692

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 98.81.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3513 / max 170.5649, expressed in 1660 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148020	12.2028	1619
148019	2.1485	1021

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.81	gold quality
colonic mucosa	UBERON:0000317	96.65	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.56	gold quality
lower esophagus mucosa	UBERON:0035834	95.98	gold quality
rectum	UBERON:0001052	95.79	gold quality
mucosa of transverse colon	UBERON:0004991	95.54	gold quality
esophagus squamous epithelium	UBERON:0006920	93.68	gold quality
esophagus mucosa	UBERON:0002469	92.53	gold quality
ventricular zone	UBERON:0003053	91.42	gold quality
cortical plate	UBERON:0005343	90.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.29	gold quality
oral cavity	UBERON:0000167	89.71	gold quality
ganglionic eminence	UBERON:0004023	89.37	gold quality
nasal cavity epithelium	UBERON:0005384	89.02	gold quality
transverse colon	UBERON:0001157	88.70	gold quality
duodenum	UBERON:0002114	88.16	gold quality
jejunal mucosa	UBERON:0000399	87.43	gold quality
minor salivary gland	UBERON:0001830	87.04	gold quality
right lung	UBERON:0002167	87.04	gold quality
upper lobe of lung	UBERON:0008948	86.93	gold quality
upper lobe of left lung	UBERON:0008952	86.93	gold quality
nasal cavity mucosa	UBERON:0001826	86.80	gold quality
mouth mucosa	UBERON:0003729	86.27	gold quality
stromal cell of endometrium	CL:0002255	85.94	gold quality
lower lobe of lung	UBERON:0008949	85.52	gold quality
caudate nucleus	UBERON:0001873	85.34	gold quality
pancreatic ductal cell	CL:0002079	85.21	silver quality
saliva-secreting gland	UBERON:0001044	85.13	gold quality
gingiva	UBERON:0001828	85.13	gold quality
skin of abdomen	UBERON:0001416	84.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.67
E-MTAB-6075	no	339.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

136 targeting ABHD17C, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
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-548P	99.98	72.25	3784
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-98-5P	99.98	72.33	1787
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-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-5688	99.96	73.23	4504
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AA	99.96	70.64	3753

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000114931
mus_musculus	Abhd17c	ENSMUSG00000038459
rattus_norvegicus	Abhd17c	ENSRNOG00000012683
caenorhabditis_elegans		WBGENE00008497
caenorhabditis_elegans		WBGENE00008498

Paralogs (7): ABHD12 (ENSG00000100997), ABHD17B (ENSG00000107362), ABHD17A (ENSG00000129968), ABHD12B (ENSG00000131969), ABHD13 (ENSG00000139826), ABHD16B (ENSG00000183260), ABHD16A (ENSG00000204427)

Protein

Protein identifiers

Alpha/beta hydrolase domain-containing protein 17C — Q6PCB6 (reviewed: Q6PCB6)

All UniProt accessions (2): Q6PCB6, H0YN98

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95.

Subcellular location. Recycling endosome membrane. Cell projection. Dendritic spine. Postsynaptic density membrane.

Post-translational modifications. Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95.

Activity regulation. Inhibited by palmostatin-B.

Similarity. Belongs to the AB hydrolase superfamily. ABHD17 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PCB6-1	1	yes
Q6PCB6-2	2

RefSeq proteins (1): NP_067037* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022742	ABHD17C-like	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF12146

Catalyzed reactions (Rhea), 1 shown:

• S-hexadecanoyl-L-cysteinyl-[protein] + H2O = L-cysteinyl-[protein] + hexadecanoate + H(+) (RHEA:19233)

UniProt features (7 total): active site 3, chain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PCB6-F1	85.94	0.75

Functional residue map

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

Catalytic / active sites (3): 211 (charge relay system); 276 (charge relay system); 305 (charge relay system)

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9648002	RAS processing
R-HSA-162582	Signal Transduction
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling

MSigDB gene sets: 190 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, MODULE_255, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_DEACYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_317, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN

GO Biological Process (4): protein depalmitoylation (GO:0002084), regulation of postsynapse organization (GO:0099175), negative regulation of protein localization to microtubule (GO:1902817), positive regulation of protein localization to endosome (GO:1905668)

GO Molecular Function (3): palmitoyl-(protein) hydrolase activity (GO:0008474), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (12): plasma membrane (GO:0005886), endosome membrane (GO:0010008), dendritic spine (GO:0043197), recycling endosome membrane (GO:0055038), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), endosome (GO:0005768), postsynaptic density (GO:0014069), membrane (GO:0016020), cell projection (GO:0042995), synapse (GO:0045202), postsynaptic membrane (GO:0045211)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RAF/MAP kinase cascade	1
MAPK1/MAPK3 signaling	1
Signal Transduction	1
MAPK family signaling cascades	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
postsynapse	2
cellular anatomical structure	2
protein deacylation	1
lipoprotein catabolic process	1
macromolecule depalmitoylation	1
regulation of synapse organization	1
postsynapse organization	1
protein localization to microtubule	1
regulation of protein localization to microtubule	1
negative regulation of protein localization	1
protein localization to endosome	1
positive regulation of protein localization	1
regulation of protein localization to endosome	1
thiolester hydrolase activity	1
palmitoyl hydrolase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
dendrite	1
neuron spine	1
endosome membrane	1
recycling endosome	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
synapse	1
endomembrane system	1
cytoplasmic vesicle	1
asymmetric synapse	1
postsynaptic specialization	1
cell junction	1
synaptic membrane	1

Protein interactions and networks

STRING

560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD17C	LYPLAL1	Q5VWZ2	545
ABHD17C	NPIPB6	E9PJ23	505
ABHD17C	LYPLA1	O75608	501
ABHD17C	PPT1	P50897	491
ABHD17C	LYPLA2	O95372	475
ABHD17C	ABHD10	Q9NUJ1	464
ABHD17C	PPT2	Q9UMR5	439
ABHD17C	ABHD11	Q8NFV4	425
ABHD17C	ZDHHC7	Q9NXF8	417
ABHD17C	ABHD16A	O95870	408
ABHD17C	ABHD6	Q9BV23	408
ABHD17C	RBBP9	O75884	387
ABHD17C	PPME1	Q9Y570	379
ABHD17C	ZDHHC5	Q9C0B5	372
ABHD17C	ZKSCAN5	Q9Y2L8	370

IntAct

72 interactions, top by confidence:

A	B	Type	Score
ABHD17C	A2M	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	APBB2	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	DNM2	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	TOR1A	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C		psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	MECP2	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	PHYH	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	PMP22	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	SMN1	psi-mi:“MI:0915”(physical association)	0.560
ABHD17C	OPTN	psi-mi:“MI:0915”(physical association)	0.560
PEX26	ABHD17C	psi-mi:“MI:0915”(physical association)	0.560
SNCA	ABHD17C	psi-mi:“MI:0915”(physical association)	0.560
HTT	ABHD17C	psi-mi:“MI:0915”(physical association)	0.560
ATXN3	ABHD17C	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (16): ABHD17C (Affinity Capture-RNA), ABHD17C (Two-hybrid), ABHD17C (Affinity Capture-Luminescence), ABHD17C (Two-hybrid), ABHD17C (Positive Genetic), ABHD17C (Affinity Capture-MS), ABHD17C (Affinity Capture-MS), ABHD17C (Affinity Capture-MS), ABHD17C (Affinity Capture-MS), USP35 (Affinity Capture-Western), ABHD17C (Affinity Capture-Western), ABHD17C (Proximity Label-MS), ABHD17C (Proximity Label-MS), ABHD17C (Proximity Label-MS), ABHD17C (Proximity Label-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A0JN27, A5PKD9, B5DFK7, D3Z7P3, G3MWR8, O94925, P13264, Q01098, Q08DW9, Q14722, Q28528, Q28D01, Q2HJ19, Q2YDM2, Q4R766, Q5JUK3, Q5NVE6, Q5RIC0, Q5SRY7, Q5TA45, Q5XIJ5, Q5ZIN0, Q5ZJ01, Q5ZJX1, Q67FW5, Q6DCC5, Q6DD70, Q6DEY3, Q6GL10, Q6PCB6, Q6ZPR4, Q7RTP6, Q7ZVZ7, Q8BTG7, Q8C6G8, Q8CJ19, Q8N2K0, Q8TF64

Diamond homologs: A0A2S3R7M0, A5PKD9, B5DFK7, Q2HJ19, Q5UQK4, Q5VST6, Q5XIJ5, Q5ZJ01, Q5ZJX1, Q6AY17, Q6DCC5, Q6DD70, Q6DEY3, Q6GL10, Q6IRP4, Q6PCB6, Q7M759, Q7ZVZ7, Q8RXP6, Q8VCV1, Q96GS6, Q99JW1, Q9KS12, P77538, P9WLC6, P9WLC7, Q21221, Q8XA81, O95870, P41879, Q1JPD2, Q4R8P0, Q5R6S0, Q5XIL6, Q6MG55, Q80YU0, Q9H3Z7, Q9Z1Q2, O94305, Q01609

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	1
Uncertain significance	28
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	Pathogenic
1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	Pathogenic
2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	Pathogenic
395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	Pathogenic
4279122	GRCh37/hg19 15q24.1-25.2(chr15:74979036-81960184)x1	Pathogenic
564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	Pathogenic
688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	Pathogenic
4279410	GRCh37/hg19 15q24.1-26.3(chr15:73506509-102429112)x3	Likely pathogenic

SpliceAI

850 predictions. Top by Δscore:

Variant	Effect	Δscore
15:80750740:C:G	donor_gain	1.0000
15:80752066:ACTT:A	acceptor_gain	1.0000
15:80752066:ACTTG:A	acceptor_gain	1.0000
15:80754149:A:AG	acceptor_gain	1.0000
15:80754150:G:GG	acceptor_gain	1.0000
15:80754150:GC:G	acceptor_gain	1.0000
15:80754150:GCAT:G	acceptor_gain	1.0000
15:80754150:GCATT:G	acceptor_gain	1.0000
15:80696006:GCGC:G	donor_gain	0.9900
15:80696018:CGGT:C	donor_loss	0.9900
15:80696020:G:GG	donor_gain	0.9900
15:80696020:GTGAG:G	donor_loss	0.9900
15:80696021:T:A	donor_loss	0.9900
15:80749508:TCCA:T	acceptor_loss	0.9900
15:80749510:CA:C	acceptor_loss	0.9900
15:80749511:A:T	acceptor_loss	0.9900
15:80749512:G:GA	acceptor_loss	0.9900
15:80752066:A:AG	acceptor_gain	0.9900
15:80752171:T:G	donor_gain	0.9900
15:80752748:A:T	donor_gain	0.9900
15:80752806:G:GT	donor_gain	0.9900
15:80752923:A:T	donor_gain	0.9900
15:80754147:GCA:G	acceptor_loss	0.9900
15:80754148:CAGC:C	acceptor_loss	0.9900
15:80754149:AGCA:A	acceptor_loss	0.9900
15:80754150:GCA:G	acceptor_gain	0.9900
15:80749690:CAG:C	donor_loss	0.9800
15:80749691:AGGT:A	donor_loss	0.9800
15:80749692:GG:G	donor_loss	0.9800
15:80749693:GTA:G	donor_loss	0.9800

AlphaMissense

2135 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:80695532:T:C	F35L	1.000
15:80695533:T:C	F35S	1.000
15:80695534:C:A	F35L	1.000
15:80695534:C:G	F35L	1.000
15:80695718:T:A	W97R	1.000
15:80695718:T:C	W97R	1.000
15:80695836:T:A	L136H	1.000
15:80695836:T:C	L136P	1.000
15:80695838:T:C	F137L	1.000
15:80695839:T:C	F137S	1.000
15:80695840:C:A	F137L	1.000
15:80695840:C:G	F137L	1.000
15:80695844:C:A	H139N	1.000
15:80695844:C:G	H139D	1.000
15:80695844:C:T	H139Y	1.000
15:80695847:G:C	G140R	1.000
15:80695847:G:T	G140C	1.000
15:80695848:G:A	G140D	1.000
15:80695848:G:T	G140V	1.000
15:80695850:A:C	N141H	1.000
15:80695850:A:G	N141D	1.000
15:80695851:A:T	N141I	1.000
15:80695852:C:A	N141K	1.000
15:80695852:C:G	N141K	1.000
15:80695853:G:C	A142P	1.000
15:80695854:C:A	A142D	1.000
15:80695859:G:C	D144H	1.000
15:80695859:G:T	D144Y	1.000
15:80695860:A:C	D144A	1.000
15:80695860:A:G	D144G	1.000

dbSNP variants (sampled 300 via entrez): RS1000018984 (15:80712527 A>G,T), RS1000034123 (15:80709965 A>C), RS1000160901 (15:80712684 C>T), RS1000296313 (15:80712509 G>A), RS1000297012 (15:80727725 G>A), RS1000303708 (15:80751132 C>T), RS1000321979 (15:80729500 A>G), RS1000353465 (15:80701604 G>A,C), RS1000411434 (15:80738438 T>C), RS1000537641 (15:80701126 T>C), RS1000553915 (15:80728653 G>A,C), RS1000568304 (15:80734456 A>G), RS1000615891 (15:80745574 TC>T), RS1000634457 (15:80751308 C>T), RS1000675609 (15:80707543 T>A,C)

Disease associations

OMIM: gene MIM:617944 | disease phenotypes: MIM:276700

GenCC curated gene-disease

Mondo (1): tyrosinemia type I (MONDO:0010161)

Orphanet (1): Tyrosinemia type 1 (Orphanet:882)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001491_10	Immune response to smallpox vaccine (IL-6)	9.000000e-07
GCST004279_14	Systolic blood pressure	5.000000e-12
GCST004776_3	Systolic blood pressure	5.000000e-07
GCST004776_74	Systolic blood pressure	5.000000e-14
GCST005829_20	Hand grip strength	1.000000e-11
GCST005830_25	Hand grip strength	1.000000e-13
GCST007094_44	Diastolic blood pressure	9.000000e-09
GCST007095_100	Systolic blood pressure	3.000000e-07
GCST007095_99	Systolic blood pressure	2.000000e-07
GCST007096_117	Pulse pressure	3.000000e-08
GCST007098_101	Diastolic blood pressure	5.000000e-06
GCST007099_161	Systolic blood pressure	1.000000e-12
GCST007267_148	Systolic blood pressure	3.000000e-18
GCST007269_285	Pulse pressure	2.000000e-10
GCST007928_57	Medication use (diuretics)	4.000000e-12
GCST007929_19	Medication use (calcium channel blockers)	6.000000e-16
GCST007930_164	Medication use (agents acting on the renin-angiotensin system)	1.000000e-09
GCST010988_209	Adult body size	1.000000e-13
GCST90000025_226	Appendicular lean mass	3.000000e-14
GCST90002407_597	White blood cell count	1.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0006335	systolic blood pressure
EFO:0006941	grip strength measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
afimoxifene	decreases expression, decreases reaction	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	decreases expression	1
Copper	decreases expression, affects binding	1
Dexamethasone	increases expression, affects cotreatment	1
Estradiol	affects cotreatment, decreases expression	1
Estrogens	decreases expression, decreases reaction	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Melphalan	decreases expression	1
Dronabinol	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004333	PHASE2	COMPLETED	Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I
NCT03284658	Not specified	WITHDRAWN	Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04196959	Not specified	COMPLETED	Evaluation of TYR Sphere
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06298292	Not specified	NOT_YET_RECRUITING	Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies