MCEE

Summary

MCEE (methylmalonyl-CoA epimerase, HGNC:16732) is a protein-coding gene on chromosome 2p13.3, encoding Methylmalonyl-CoA epimerase, mitochondrial (Q96PE7). Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.

The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria.

Source: NCBI Gene 84693 — RefSeq curated summary.

At a glance

• Gene–disease (curated): methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Definitive, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 142 total — 6 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 12
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_032601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16732
Approved symbol	MCEE
Name	methylmalonyl-CoA epimerase
Location	2p13.3
Locus type	gene with protein product
Status	Approved
Aliases	GLOD2, MCE, MMCE
Ensembl gene	ENSG00000124370
Ensembl biotype	protein_coding
OMIM	608419
Entrez	84693

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000244217, ENST00000413592, ENST00000462609, ENST00000486135, ENST00000494660, ENST00000916433

RefSeq mRNA: 1 — MANE Select: NM_032601 NM_032601

CCDS: CCDS1915

Canonical transcript exons

ENST00000244217 — 3 exons

Exon	Start	End
ENSE00001935724	71130180	71130229
ENSE00003532574	71124206	71124543
ENSE00003849578	71109687	71110122

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 94.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6982 / max 95.5856, expressed in 1751 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29058	9.6982	1751

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	94.61	gold quality
right lobe of liver	UBERON:0001114	94.08	gold quality
left ventricle myocardium	UBERON:0006566	94.02	gold quality
upper arm skin	UBERON:0004263	93.13	gold quality
heart left ventricle	UBERON:0002084	92.89	gold quality
right atrium auricular region	UBERON:0006631	92.63	gold quality
cardiac ventricle	UBERON:0002082	92.59	gold quality
right adrenal gland	UBERON:0001233	92.50	gold quality
left adrenal gland	UBERON:0001234	92.36	gold quality
calcaneal tendon	UBERON:0003701	92.22	gold quality
minor salivary gland	UBERON:0001830	92.17	gold quality
cardiac atrium	UBERON:0002081	92.16	gold quality
left adrenal gland cortex	UBERON:0035825	92.11	gold quality
pancreas	UBERON:0001264	91.89	gold quality
right adrenal gland cortex	UBERON:0035827	91.88	gold quality
heart	UBERON:0000948	91.75	gold quality
mouth mucosa	UBERON:0003729	91.56	gold quality
rectum	UBERON:0001052	91.35	gold quality
myocardium	UBERON:0002349	91.19	gold quality
muscle of leg	UBERON:0001383	91.18	gold quality
deltoid	UBERON:0001476	91.17	gold quality
quadriceps femoris	UBERON:0001377	91.15	gold quality
liver	UBERON:0002107	91.08	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.06	gold quality
vastus lateralis	UBERON:0001379	90.98	gold quality
adrenal cortex	UBERON:0001235	90.94	gold quality
adrenal gland	UBERON:0002369	90.88	gold quality
gastrocnemius	UBERON:0001388	90.86	gold quality
esophagus mucosa	UBERON:0002469	90.80	gold quality
saliva-secreting gland	UBERON:0001044	90.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting MCEE, 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-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-642B-5P	96.37	67.26	745

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• analysis of frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) in atypical methylmalonic aciduria (PMID:17823972)
• Results indicate that methylmalonyl-CoA epimerase (MCEE)-Arg143Cys mutaaaaaaation was detectable at comparable levels to wildtype (wt) MCEE, but had slightly altered unfolding kinetics and greatly reduced activity. (PMID:30682498)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mcee	ENSMUSG00000033429
rattus_norvegicus	Mcee	ENSRNOG00000016327
caenorhabditis_elegans	mce-1	WBGENE00008415

Paralogs (1): GLOD5 (ENSG00000171433)

Protein

Protein identifiers

Methylmalonyl-CoA epimerase, mitochondrial — Q96PE7 (reviewed: Q96PE7)

Alternative names: DL-methylmalonyl-CoA racemase

All UniProt accessions (3): F5GZ54, H7BZS7, Q96PE7

UniProt curated annotations — full annotation on UniProt →

Function. Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.

Subcellular location. Mitochondrion.

Disease relevance. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120] Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the methylmalonyl-CoA epimerase family.

RefSeq proteins (1): NP_115990* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR017515	MeMalonyl-CoA_epimerase	Family
IPR029068	Glyas_Bleomycin-R_OHBP_Dase	Homologous_superfamily
IPR037523	VOC_core	Domain
IPR051785	MMCE/EMCE_epimerase	Family

Pfam: PF13669

Enzyme classification (BRENDA):

• EC 5.1.99.1 — methylmalonyl-CoA epimerase (BRENDA: 12 organisms, 16 substrates, 14 inhibitors, 4 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
(2S)-ETHYLMALONYL-COA	0.04	1
(S)-METHYLMALONYL-COA	0.08	1
DL-METHYLMALONYL-COA	0.1	1
METHYLMALONYL-COA	0.079	1

Catalyzed reactions (Rhea), 1 shown:

• (R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA (RHEA:20553)

UniProt features (23 total): strand 7, helix 5, binding site 3, modified residue 3, sequence variant 2, transit peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3RMU	X-RAY DIFFRACTION	1.8
6QH4	X-RAY DIFFRACTION	1.92

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PE7-F1	87.27	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.

Ligand- & substrate-binding residues (3): 50; 122; 172

Post-translational modifications (3): 114, 150, 150

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-71032	Propionyl-CoA catabolism
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 224 (showing top): GOBP_FATTY_ACID_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SHORT_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN

GO Biological Process (2): short-chain fatty acid catabolic process (GO:0019626), L-methylmalonyl-CoA metabolic process (GO:0046491)

GO Molecular Function (4): methylmalonyl-CoA epimerase activity (GO:0004493), metal ion binding (GO:0046872), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Mitochondrial Fatty Acid Beta-Oxidation	1
Metabolism	1
Fatty acid metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid catabolic process	1
short-chain fatty acid metabolic process	1
acyl-CoA metabolic process	1
racemase and epimerase activity	1
cation binding	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2274 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCEE	SPR	P35270	926
MCEE	MMUT	P22033	921
MCEE	MMAA	Q8IVH4	911
MCEE	MMADHC	Q9H3L0	801
MCEE	MMAB	Q96EY8	794
MCEE	CBR1	P16152	766
MCEE	PCCB	P05166	673
MCEE	DHFR2	Q86XF0	664
MCEE	PCCA	P05165	626
MCEE	AKR1B1	P15121	625
MCEE	MMACHC	Q9Y4U1	593
MCEE	LMBRD1	Q9NUN5	583
MCEE	DHFR	P00374	551
MCEE	QDPR	P09417	518
MCEE	HMGCL	P35914	496
MCEE	PCBD1	P61457	496

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MCEE	AGTRAP	psi-mi:“MI:0915”(physical association)	0.720
MCEE	CMTM5	psi-mi:“MI:0915”(physical association)	0.720
CMTM5	MCEE	psi-mi:“MI:0915”(physical association)	0.720
AGTRAP	MCEE	psi-mi:“MI:0915”(physical association)	0.720
AGTRAP	MCEE	psi-mi:“MI:0915”(physical association)	0.670
CMTM5	MCEE	psi-mi:“MI:0915”(physical association)	0.670
MCEE	CMTM5	psi-mi:“MI:0915”(physical association)	0.670
MCEE	STX8	psi-mi:“MI:0915”(physical association)	0.560
CD81	MCEE	psi-mi:“MI:0915”(physical association)	0.560
MCEE	CLUH	psi-mi:“MI:0914”(association)	0.530
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
MCEE	ZNF732	psi-mi:“MI:0914”(association)	0.350
RPS10	ZNF646	psi-mi:“MI:0914”(association)	0.350
MCEE	AGTRAP	psi-mi:“MI:0915”(physical association)	0.000
MCEE	CMTM5	psi-mi:“MI:0915”(physical association)	0.000
STX8	MCEE	psi-mi:“MI:0915”(physical association)	0.000
CD81	MCEE	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): MCEE (Two-hybrid), CMTM5 (Two-hybrid), AGTRAP (Two-hybrid), CMTM5 (Two-hybrid), MCEE (Two-hybrid), CMTM5 (Two-hybrid), STX8 (Two-hybrid), AGTRAP (Two-hybrid), DBT (Affinity Capture-MS), ZNF732 (Affinity Capture-MS), MCEE (Affinity Capture-MS), CLUH (Affinity Capture-MS), MCEE (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A0U2WCB2, A6NK44, A6QLI6, A8XX92, A9NNH7, B9FK36, O42764, P05165, P07997, P08680, P0DTA4, P13196, P13446, P14882, P16635, P22557, P43090, P54889, Q19842, Q28CR0, Q2KIZ3, Q2QMG2, Q42523, Q42777, Q4KLB0, Q4WHU1, Q502D1, Q553V2, Q5I0C3, Q5R557, Q5R7K1, Q5R9R9, Q612F5, Q63147, Q6CDR5, Q6JQN1, Q759G5, Q872T7, Q8K370, Q91ZA3

Diamond homologs: O58010, P54540, Q2KIZ3, Q3IZP4, Q553V2, Q96PE7, Q9D1I5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	5
Uncertain significance	43
Likely benign	58
Benign	18

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
2343	NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	Pathogenic
2830026	NM_032601.4(MCEE):c.19dup (p.Ala7fs)	Pathogenic
2992461	NM_032601.4(MCEE):c.49dup (p.Ser17fs)	Pathogenic
3645072	NM_032601.4(MCEE):c.208_209insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATTCTGG (p.Gly70delinsAlaGlyArgGlyGlySerArgLeuTer)	Pathogenic
3645773	NM_032601.4(MCEE):c.102_105dup (p.Asp36fs)	Pathogenic
833393	NC_000002.12:g.(?71109950)(71130239_?)del	Pathogenic
2443797	NM_032601.4(MCEE):c.379-644A>G	Likely pathogenic
2735271	NM_032601.4(MCEE):c.375_378+4del	Likely pathogenic
2771364	NM_032601.4(MCEE):c.40+1G>T	Likely pathogenic
3247278	NC_000002.11:g.(?71351316)(71351693_?)dup	Likely pathogenic
3586905	NM_032601.4(MCEE):c.40+1G>A	Likely pathogenic

SpliceAI

761 predictions. Top by Δscore:

Variant	Effect	Δscore
2:71110121:ACC:A	acceptor_loss	1.0000
2:71110124:T:C	acceptor_gain	1.0000
2:71110764:TATGG:T	donor_gain	1.0000
2:71110765:A:AC	donor_gain	1.0000
2:71110765:ATGGA:A	donor_gain	1.0000
2:71110766:T:C	donor_gain	1.0000
2:71124539:AAGCC:A	acceptor_gain	1.0000
2:71130140:C:CA	donor_gain	1.0000
2:71110119:CCAC:C	acceptor_gain	0.9900
2:71110120:CAC:C	acceptor_gain	0.9900
2:71110120:CACC:C	acceptor_gain	0.9900
2:71110123:C:CC	acceptor_gain	0.9900
2:71110124:T:TC	acceptor_gain	0.9900
2:71110713:A:AC	donor_gain	0.9900
2:71110714:C:CC	donor_gain	0.9900
2:71110761:A:AC	donor_gain	0.9900
2:71110762:C:CC	donor_gain	0.9900
2:71124540:AGCC:A	acceptor_gain	0.9900
2:71124541:GCC:G	acceptor_gain	0.9900
2:71124542:CC:C	acceptor_gain	0.9900
2:71124542:CCC:C	acceptor_gain	0.9900
2:71124543:CC:C	acceptor_gain	0.9900
2:71124544:C:A	acceptor_loss	0.9900
2:71124544:C:CC	acceptor_gain	0.9900
2:71124545:T:C	acceptor_loss	0.9900
2:71130182:A:AC	donor_gain	0.9900
2:71130183:C:CC	donor_gain	0.9900
2:71130183:CGG:C	donor_gain	0.9900
2:71110122:CCT:C	acceptor_gain	0.9800
2:71110715:T:C	donor_gain	0.9800

AlphaMissense

1141 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:71124212:G:C	C124W	0.998
2:71110021:A:C	F160L	0.997
2:71110021:A:T	F160L	0.997
2:71110023:A:G	F160L	0.997
2:71124213:C:T	C124Y	0.996
2:71124251:A:C	F111L	0.996
2:71124251:A:T	F111L	0.996
2:71124253:A:G	F111L	0.996
2:71124318:A:T	V89D	0.995
2:71124291:A:G	L98P	0.994
2:71124434:A:C	H50Q	0.993
2:71124434:A:T	H50Q	0.993
2:71109983:A:G	L173P	0.992
2:71124436:G:C	H50D	0.992
2:71109985:T:A	E172D	0.991
2:71109985:T:G	E172D	0.991
2:71124218:G:C	H122Q	0.991
2:71124218:G:T	H122Q	0.991
2:71124220:G:C	H122D	0.991
2:71110022:A:G	F160S	0.990
2:71124219:T:G	H122P	0.990
2:71124252:A:G	F111S	0.990
2:71124266:A:C	S106R	0.990
2:71124266:A:T	S106R	0.990
2:71124268:T:G	S106R	0.990
2:71124435:T:G	H50P	0.990
2:71124320:A:C	F88L	0.989
2:71124320:A:T	F88L	0.989
2:71124322:A:G	F88L	0.989
2:71124214:A:G	C124R	0.988

dbSNP variants (sampled 300 via entrez): RS1000132299 (2:71116791 G>A), RS1000524042 (2:71120456 A>C,G), RS1000594027 (2:71127310 A>G), RS1000640889 (2:71123104 C>T), RS1000769256 (2:71114994 T>G), RS1001028304 (2:71126956 C>T), RS1001691388 (2:71113833 C>A,T), RS1001989046 (2:71112656 G>A,C), RS1002031618 (2:71122284 C>A,T), RS1002057153 (2:71114202 G>A), RS1002079505 (2:71113875 A>T), RS1002083426 (2:71119375 C>A,T), RS1002197913 (2:71119072 C>T), RS1002443269 (2:71112278 A>G), RS1002535269 (2:71117548 A>T)

Disease associations

OMIM: gene MIM:608419 | disease phenotypes: MIM:251120, MIM:251000

GenCC curated gene-disease

Disease	Classification	Inheritance
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Definitive	AR

Mondo (2): methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (MONDO:0009615), methylmalonic acidemia (MONDO:0002012)

Orphanet (1): Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Orphanet:308425)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001257	Spasticity
HP:0001270	Motor delay
HP:0001508	Failure to thrive
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0002020	Gastroesophageal reflux
HP:0002160	Hyperhomocystinemia
HP:0002919	Ketonuria
HP:0003593	Infantile onset
HP:0012120	Methylmalonic aciduria
HP:0031544	Elevated circulating palmitoleylcarnitine concentration

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002380_1	Erythema nodosum in inflammatory bowel disease	3.000000e-06
GCST009391_1206	Metabolite levels	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010419	triacylglycerol 54:1 measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C537358	Methylmalonic acidemia (supp.)
C565386	Methylmalonyl-CoA Epimerase Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases expression, increases methylation, affects cotreatment	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	decreases expression	2
dicrotophos	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
linalool	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Atrazine	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B4DQ	WG3499	Finite cell line

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02426775	PHASE3	COMPLETED	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
NCT07163364	PHASE3	NOT_YET_RECRUITING	A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
NCT01341379	PHASE2	WITHDRAWN	Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
NCT01597440	PHASE2	TERMINATED	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
NCT01599286	PHASE2	COMPLETED	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
NCT04732429	PHASE2	TERMINATED	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT04836494	PHASE1	TERMINATED	A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
NCT03810690	PHASE1/PHASE2	WITHDRAWN	Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia
NCT04581785	PHASE1/PHASE2	TERMINATED	Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
NCT04899310	PHASE1/PHASE2	TERMINATED	A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
NCT05295433	PHASE1/PHASE2	RECRUITING	An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
NCT05778877	PHASE1/PHASE2	WITHDRAWN	A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA
NCT00078078	Not specified	RECRUITING	Clinical and Laboratory Study of Methylmalonic Acidemia
NCT01289158	Not specified	UNKNOWN	Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
NCT03484767	Not specified	COMPLETED	The MaP Study: Mapping the Patient Journey in MMA and PA
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04176523	Not specified	RECRUITING	Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
NCT05040178	Not specified	RECRUITING	An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
NCT05330039	Not specified	COMPLETED	Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
NCT05438485	Not specified	TERMINATED	Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
NCT05506254	Not specified	ACTIVE_NOT_RECRUITING	Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool
NCT07432880	Not specified	NOT_YET_RECRUITING	A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene