MPST

Summary

MPST (mercaptopyruvate sulfurtransferase, HGNC:7223) is a protein-coding gene on chromosome 22q12.3, encoding 3-mercaptopyruvate sulfurtransferase (P25325). Transfer of a sulfur ion to cyanide or to other thiol compounds.

This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene.

Source: NCBI Gene 4357 — RefSeq curated summary.

At a glance

• Gene–disease (curated): encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (No Known Disease Relationship, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 56 total
• Druggable target: yes
• MANE Select transcript: NM_021126

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7223
Approved symbol	MPST
Name	mercaptopyruvate sulfurtransferase
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	MST, TST2, TUM1
Ensembl gene	ENSG00000128309
Ensembl biotype	protein_coding
OMIM	602496
Entrez	4357

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 retained_intron

ENST00000341116, ENST00000397225, ENST00000401419, ENST00000404393, ENST00000404802, ENST00000429360, ENST00000485587, ENST00000865000, ENST00000865001, ENST00000865002, ENST00000865003, ENST00000865004, ENST00000935191, ENST00000935192, ENST00000935193

RefSeq mRNA: 5 — MANE Select: NM_021126 NM_001013436, NM_001130517, NM_001369904, NM_001369905, NM_021126

CCDS: CCDS13939, CCDS46703

Canonical transcript exons

ENST00000429360 — 3 exons

Exon	Start	End
ENSE00001958450	37029216	37029815
ENSE00003763753	37024192	37024810
ENSE00003765684	37019742	37019872

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 98.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5938 / max 299.4998, expressed in 1779 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192094	11.9340	1749
192095	4.6791	1451
192099	1.8915	958
192093	0.9846	699
192100	0.2111	85
192097	0.1949	23
192102	0.1794	61
192101	0.1512	49
192092	0.1159	31
192103	0.1079	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.92	gold quality
right lobe of liver	UBERON:0001114	98.71	gold quality
lower esophagus mucosa	UBERON:0035834	97.52	gold quality
liver	UBERON:0002107	97.03	gold quality
transverse colon	UBERON:0001157	96.58	gold quality
body of pancreas	UBERON:0001150	96.34	gold quality
ileal mucosa	UBERON:0000331	95.81	gold quality
left ovary	UBERON:0002119	95.79	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.55	gold quality
right ovary	UBERON:0002118	95.51	gold quality
duodenum	UBERON:0002114	95.40	gold quality
body of stomach	UBERON:0001161	95.35	gold quality
mucosa of stomach	UBERON:0001199	95.30	gold quality
esophagus mucosa	UBERON:0002469	95.04	gold quality
skin of abdomen	UBERON:0001416	94.99	gold quality
small intestine	UBERON:0002108	94.92	gold quality
gastrocnemius	UBERON:0001388	94.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.89	gold quality
skin of leg	UBERON:0001511	94.66	gold quality
right lung	UBERON:0002167	94.36	gold quality
right adrenal gland	UBERON:0001233	94.32	gold quality
esophagus	UBERON:0001043	94.14	gold quality
right adrenal gland cortex	UBERON:0035827	94.11	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.09	gold quality
muscle of leg	UBERON:0001383	93.81	gold quality
colon	UBERON:0001155	93.75	gold quality
right atrium auricular region	UBERON:0006631	93.74	gold quality
lower esophagus	UBERON:0013473	93.60	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.60	gold quality
large intestine	UBERON:0000059	93.57	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	1366.32
E-HCAD-4	yes	144.94
E-HCAD-6	yes	57.04
E-MTAB-8410	yes	15.03
E-ENAD-27	no	4.32
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

Literature-anchored findings (GeneRIF, showing 14)

• This work is the first report of a functional genetic polymorphism affecting MPST and should help in investigation of disorders such as mercaptolactate-cysteine disulfiduria. (PMID:16545926)
• Data suggest that impaired rhodanese expression is associated with increased whole cell reactive oxygen species as well as higher mitochondrial superoxide production and predicts mortality in hemodialysis patients. (PMID:19695240)
• In all the investigated cell lines, the activity of MPST was higher than that of CST, which suggests that in these cells, the main pathway of sulfane sulfur formation is the MPST-catalyzed reaction. (PMID:20446008)
• The crystal structure analysis allows us to propose a detailed mechanism for MST in which an Asp-His-Ser catalytic triad is positioned to activate the nucleophilic cysteine residue and participate in general acid-base chemistry (PMID:23698001)
• distinct roles of each TUM1 isoform in the sulfur transfer processes in the cell (PMID:25336638)
• In this review, we discuss the roles of non-canonical Hippo/Mst signaling pathways in lymphocyte development and functions. [review] (PMID:25487919)
• 3-Mercaptopyruvate sulphurtransferase and not cystathionine gamma-lyase is the primary regulator of coronary artery hydrogen sulfide production and function. (PMID:26519030)
• 3-Mercaptopyruvate sulfurtransferase supports endothelial cell angiogenesis and bioenergetics. (PMID:30644090)
• MPST inactivation or silencing enhances the plasticity of dermal fibroblasts in a TET1 and glycolysis dependent manner and promotes adipogenic transdifferentiation. (PMID:31634482)
• Thioredoxin regulates human mercaptopyruvate sulfurtransferase at physiologically-relevant concentrations. (PMID:32179647)
• 3-Mercaptopyruvate sulfurtransferase represses tumour progression and predicts prognosis in hepatocellular carcinoma. (PMID:35243746)
• MPST deficiency promotes intestinal epithelial cell apoptosis and aggravates inflammatory bowel disease via AKT. (PMID:36126419)
• 3-Mercaptopyruvate sulfur transferase is a protein persulfidase. (PMID:36732619)
• Role of the 3-mercaptopyruvate sulfurtransferase in colon/colorectal cancers. (PMID:38631098)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mpst	ENSMUSG00000071711
rattus_norvegicus	Mpst	ENSRNOG00000000185
caenorhabditis_elegans		WBGENE00008409
caenorhabditis_elegans		WBGENE00010380
caenorhabditis_elegans		WBGENE00010383
caenorhabditis_elegans		WBGENE00011307
caenorhabditis_elegans		WBGENE00017387
caenorhabditis_elegans		WBGENE00022006
caenorhabditis_elegans		WBGENE00022007

Paralogs (1): TST (ENSG00000128311)

Protein

Protein identifiers

3-mercaptopyruvate sulfurtransferase — P25325 (reviewed: P25325)

All UniProt accessions (3): P25325, A0A140VJX3, B1AH49

UniProt curated annotations — full annotation on UniProt →

Function. Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions.

Subunit / interactions. Monomer (active form). Homodimer; disulfide-linked (inactive form).

Subcellular location. Cytoplasm. Mitochondrion. Synapse. Synaptosome.

Disease relevance. Aberrant MPST activity is found in a few cases of mercaptolactate-cysteine disulfiduria (MCDU) characterized by the appearance of large quantaties of the sulfur-containing amino acid, beta-mercaptolactate-cysteine disulfide, in the urine. Some cases have associated intellectual disability.

Activity regulation. By oxidative stress, and thioredoxin. Under oxidative stress conditions, the catalytic cysteine site is converted to a sulfenate which inhibits the MPST enzyme activity. Reduced thioredoxin cleaves an intersubunit disulfide bond to turn on the redox switch and reactivate the enzyme.

Domain organisation. Contains two rhodanese domains with different primary structures but with near identical secondary structure conformations suggesting a common evolutionary origin. Only the C-terminal rhodanese domain contains the catalytic cysteine residue.

Miscellaneous. Thioredoxin (Trx) or dihydrolipoic acid (DHLA) are required to release hydrogen sulfide from the persulfide intermediate.

Isoforms (2)

UniProt ID	Names	Canonical?
P25325-1	1	yes
P25325-2	2

RefSeq proteins (5): NP_001013454, NP_001123989, NP_001356833, NP_001356834, NP_066949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001307	Thiosulphate_STrfase_CS	Conserved_site
IPR001763	Rhodanese-like_dom	Domain
IPR036873	Rhodanese-like_dom_sf	Homologous_superfamily
IPR045078	TST/MPST-like	Family

Pfam: PF00581

Enzyme classification (BRENDA):

• EC 2.8.1.2 — 3-mercaptopyruvate sulfurtransferase (BRENDA: 12 organisms, 45 substrates, 35 inhibitors, 78 Km, 47 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
3-MERCAPTOPYRUVATE	0.015–73	48
CYANIDE	1.66–6	4
L-CYSTEINE	3.8–6	4
THIOREDOXIN	0.0025–0.0031	4
DITHIOTHREITOL	2.59–4.6	3
N-ACETYL-L-CYSTEINE	11.4–17	3
2-MERCAPTOETHANOL	19–108	2
THIOSULFATE	1.7–266	2
CYSTEINE	8.2	1
DIHYDROLIPOIC ACID	4.4	1
GLUTATHIONE	28	1
L-HOMOCYSTEINE	12.5	1
REDUCED THIOREDOXIN	0.3	1

Catalyzed reactions (Rhea), 1 shown:

• 2-oxo-3-sulfanylpropanoate + [thioredoxin]-dithiol = [thioredoxin]-disulfide + hydrogen sulfide + pyruvate + H(+) (RHEA:21740)

UniProt features (43 total): helix 13, modified residue 9, strand 9, sequence conflict 2, domain 2, initiator methionine 1, chain 1, disulfide bond 1, splice variant 1, turn 1, region of interest 1, active site 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4JGT	X-RAY DIFFRACTION	2.16
3OLH	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P25325-F1	95.74	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 (1): 248 (cysteine persulfide intermediate)

Ligand- & substrate-binding residues (1): 188

Post-translational modifications (9): 40, 40, 146, 164, 15, 23, 2, 3, 35

Disulfide bonds (1): 264

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1614558	Degradation of cysteine and homocysteine
R-HSA-1430728	Metabolism
R-HSA-1614635	Sulfur amino acid metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 150 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, GOBP_TRNA_METABOLIC_PROCESS, GOBP_HOMOCYSTEINE_METABOLIC_PROCESS, GOBP_RNA_MODIFICATION, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_SULFUR_COMPOUND_CATABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (8): sulfur amino acid catabolic process (GO:0000098), kidney development (GO:0001822), liver development (GO:0001889), cyanate catabolic process (GO:0009440), response to toxic substance (GO:0009636), transsulfuration (GO:0019346), spinal cord development (GO:0021510), hydrogen sulfide biosynthetic process (GO:0070814)

GO Molecular Function (6): thiosulfate-cyanide sulfurtransferase activity (GO:0004792), sulfurtransferase activity (GO:0016783), 3-mercaptopyruvate sulfurtransferase activity (GO:0016784), identical protein binding (GO:0042802), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), neuron projection (GO:0043005), synapse (GO:0045202), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sulfur amino acid metabolism	1
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sulfurtransferase activity	2
sulfur amino acid metabolic process	1
sulfur compound catabolic process	1
carboxylic acid catabolic process	1
animal organ development	1
renal system development	1
gland development	1
hepaticobiliary system development	1
catabolic process	1
response to chemical	1
homocysteine metabolic process	1
L-amino acid metabolic process	1
proteinogenic amino acid metabolic process	1
central nervous system development	1
anatomical structure development	1
sulfur compound biosynthetic process	1
hydrogen sulfide metabolic process	1
transferase activity, transferring sulphur-containing groups	1
protein binding	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
plasma membrane bounded cell projection	1
cell junction	1
extracellular vesicle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1063 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPST	CTH	P32929	940
MPST	P0DN79	P0DN79	914
MPST	H7C2H4	H7C2H4	914
MPST	RET	P07949	906
MPST	MOCS3	O95396	880
MPST	CTU1	Q7Z7A3	821
MPST	NFS1	Q9Y697	816
MPST	URM1	Q9BTM9	816
MPST	SUOX	P51687	764
MPST	SQOR	Q9Y6N5	758
MPST	ETHE1	O95571	750
MPST	DAO	P14920	730
MPST	CARS2	Q9HA77	616
MPST	CARS1	P49589	593
MPST	CDO1	P78513	548

IntAct

19 interactions, top by confidence:

A	B	Type	Score
MPST	AKT1	psi-mi:“MI:0915”(physical association)	0.570
MPST	AKT1	psi-mi:“MI:0403”(colocalization)	0.570
MPST	AKT1	psi-mi:“MI:0407”(direct interaction)	0.570
ZBED1	MPST	psi-mi:“MI:0915”(physical association)	0.560
PCNA	MPST	psi-mi:“MI:0915”(physical association)	0.370
MPST	TFAP2A	psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
CHM	POLR3A	psi-mi:“MI:0914”(association)	0.350
DISC1	AGRN	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
LARP7	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
DDX6	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
MPST	ZBED1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (69): MPST (Co-fractionation), MPST (Affinity Capture-MS), SPR (Co-fractionation), GLRX5 (Co-fractionation), PARK7 (Co-fractionation), NENF (Co-fractionation), C21orf33 (Co-fractionation), HINT2 (Co-fractionation), ACO2 (Co-fractionation), LACTB2 (Co-fractionation), GRHPR (Co-fractionation), FXN (Co-fractionation), CLIC4 (Co-fractionation), PMPCA (Co-fractionation), MPST (Co-fractionation)

ESM2 similar proteins: A4FV98, A4IFH5, A5PK51, A6NDG6, D3YWP0, D3ZDK7, P10950, P24298, P25325, P50336, P60487, Q0VD18, Q12788, Q1JPJ0, Q2KJJ5, Q2T9S4, Q32NY4, Q3UGR5, Q3ZBF9, Q501J2, Q5BJJ5, Q5F4B1, Q5I0D5, Q5R4B4, Q5U2W5, Q5ZIW1, Q60HD5, Q6AYR6, Q6SKR2, Q6XQN6, Q86VU5, Q8BIG7, Q8C4J7, Q8CG76, Q8CHP8, Q8IZ69, Q8NE01, Q8R2H9, Q8TCD5, Q8TCT1

Diamond homologs: O26719, P25325, P27477, Q9HUK9, O64530, P00586, P24329, P25324, P31142, P46635, P52196, P58388, P97532, Q08686, Q16762, Q24JL3, Q99J99, Q9I452, Q9USJ1, D4GYM0, P71121, P91247, Q72JV2, P59989, P9WHF8, P9WHF9, A0R4C9, P16385, P46700, P9WHF4, P9WHF5, Q7TX80, O17730, P52197, P78067, P9WHF6, P9WHF7, Q50036, Q7TWT6, Q9RXT9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

739 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37029200:T:TA	acceptor_gain	0.9900
22:37029211:T:A	acceptor_gain	0.9900
22:37019770:TGCAG:T	donor_loss	0.9800
22:37019771:GCAGG:G	donor_loss	0.9800
22:37019772:CAGGT:C	donor_loss	0.9800
22:37019773:AGGTT:A	donor_loss	0.9800
22:37019774:GGTT:G	donor_loss	0.9800
22:37019775:G:A	donor_loss	0.9800
22:37022460:TG:T	donor_gain	0.9800
22:37024170:T:TA	acceptor_gain	0.9800
22:37029213:TAGGC:T	acceptor_loss	0.9800
22:37029214:A:AG	acceptor_gain	0.9800
22:37029214:A:AT	acceptor_loss	0.9800
22:37029215:G:A	acceptor_loss	0.9800
22:37029215:G:GG	acceptor_gain	0.9800
22:37029215:GGC:G	acceptor_gain	0.9800
22:37024776:C:T	donor_gain	0.9700
22:37024807:GACG:G	donor_gain	0.9700
22:37029208:T:TA	acceptor_gain	0.9700
22:37029214:AG:A	acceptor_gain	0.9700
22:37029215:GG:G	acceptor_gain	0.9700
22:37029215:GGCA:G	acceptor_gain	0.9700
22:37022461:GA:G	donor_gain	0.9600
22:37022462:AA:A	donor_gain	0.9600
22:37022464:G:GG	donor_gain	0.9600
22:37019915:G:GT	donor_gain	0.9500
22:37024188:CCAGG:C	acceptor_gain	0.9500
22:37024189:CAGGC:C	acceptor_gain	0.9500
22:37029215:GGCAT:G	acceptor_gain	0.9500
22:37019850:G:GT	donor_gain	0.9400

AlphaMissense

2048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:37024780:T:C	F189L	0.995
22:37024782:C:A	F189L	0.995
22:37024782:C:G	F189L	0.995
22:37029448:G:C	W276C	0.994
22:37029448:G:T	W276C	0.994
22:37029384:G:A	C255Y	0.993
22:37029385:C:G	C255W	0.993
22:37024360:T:C	F49L	0.992
22:37024362:C:A	F49L	0.992
22:37024362:C:G	F49L	0.992
22:37024759:G:C	D182H	0.992
22:37029446:T:A	W276R	0.992
22:37029446:T:C	W276R	0.992
22:37024505:T:A	V97D	0.991
22:37029455:T:A	W279R	0.990
22:37029455:T:C	W279R	0.990
22:37024760:A:T	D182V	0.989
22:37024760:A:C	D182A	0.988
22:37024516:G:C	D101H	0.987
22:37024517:A:T	D101V	0.987
22:37024765:C:G	R184G	0.987
22:37029257:T:C	F213L	0.987
22:37029259:C:A	F213L	0.987
22:37029259:C:G	F213L	0.987
22:37024549:C:A	R112S	0.986
22:37029383:T:C	C255R	0.986
22:37024544:C:A	A110D	0.985
22:37024558:T:A	W115R	0.985
22:37024558:T:C	W115R	0.985
22:37024760:A:G	D182G	0.985

dbSNP variants (sampled 300 via entrez): RS1000403867 (22:37019800 T>C), RS1000490589 (22:37021533 C>T), RS1000606089 (22:37021181 T>C,G), RS1000750792 (22:37027077 C>A,T), RS1001105855 (22:37027018 T>C), RS1001338224 (22:37021524 G>A), RS1001592428 (22:37026729 G>A), RS1001675143 (22:37018682 C>G,T), RS1001774198 (22:37024515 C>A,T), RS1001923641 (22:37030210 T>C), RS1002196716 (22:37028009 A>T), RS1002617451 (22:37027265 G>A), RS1003166856 (22:37023024 G>C), RS1003443979 (22:37023371 T>C), RS1003463346 (22:37019913 A>G)

Disease associations

OMIM: gene MIM:602496 | disease phenotypes: MIM:249650

GenCC curated gene-disease

Disease	Classification	Inheritance
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	No Known Disease Relationship	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	No Known Disease Relationship	AR

Mondo (1): encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (MONDO:0009585)

Orphanet (1): Beta-mercaptolactate cysteine disulfiduria (Orphanet:1035)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007457_8	Eye color (saturation)	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009764	eye colour measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563085	Mercaptolactate-Cysteine Disulfiduria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066937 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Hydrogen sulphide synthesis

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

Ligand	Action	Affinity	Parameter
I3MT-3	Inhibition	5.57	pIC50

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases expression, increases methylation	4
bisphenol A	affects expression, decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
Acrolein	decreases expression, increases abundance, affects cotreatment	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
Smoke	decreases expression, increases abundance, increases expression	2
1-Methyl-4-phenylpyridinium	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
bismuth tripotassium dicitrate	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651808	Binding	Binding affinity to human MPST incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3B7	Abcam HEK293T MPST KO	Transformed cell line	Female

Clinical trials (associated diseases)

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