MRPL35

gene
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Also known as bL35m

Summary

MRPL35 (mitochondrial ribosomal protein L35, HGNC:14489) is a protein-coding gene on chromosome 2p11.2, encoding Large ribosomal subunit protein bL35m (Q9NZE8). It is a selective cancer dependency (DepMap: 71.3% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp.

Source: NCBI Gene 51318 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 43 total — 1 pathogenic
  • Cancer dependency (DepMap): dependent in 71.3% of screened cell lines
  • MANE Select transcript: NM_016622

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14489
Approved symbolMRPL35
Namemitochondrial ribosomal protein L35
Location2p11.2
Locus typegene with protein product
StatusApproved
AliasesbL35m
Ensembl geneENSG00000132313
Ensembl biotypeprotein_coding
OMIM611841
Entrez51318

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000254644, ENST00000337109, ENST00000409180, ENST00000605125

RefSeq mRNA: 3 — MANE Select: NM_016622 NM_001363782, NM_016622, NM_145644

CCDS: CCDS1987, CCDS1988, CCDS86858

Canonical transcript exons

ENST00000337109 — 4 exons

ExonStartEnd
ENSE000009025668620610686206295
ENSE000009025678620718386207327
ENSE000011860338619945786199533
ENSE000013906218621048086213790

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 95.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.8312 / max 443.1959, expressed in 1813 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
2129137.83121813

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
rectumUBERON:000105295.97gold quality
heart left ventricleUBERON:000208494.42gold quality
mucosa of transverse colonUBERON:000499194.40gold quality
left ventricle myocardiumUBERON:000656694.36gold quality
cardiac ventricleUBERON:000208294.35gold quality
heart right ventricleUBERON:000208093.73gold quality
apex of heartUBERON:000209892.99gold quality
islet of LangerhansUBERON:000000692.97gold quality
heartUBERON:000094892.94gold quality
hindlimb stylopod muscleUBERON:000425292.53gold quality
right atrium auricular regionUBERON:000663192.52gold quality
cardiac atriumUBERON:000208192.29gold quality
muscle of legUBERON:000138391.95gold quality
adrenal tissueUBERON:001830391.84gold quality
myocardiumUBERON:000234991.72gold quality
gastrocnemiusUBERON:000138891.68gold quality
biceps brachiiUBERON:000150791.47gold quality
transverse colonUBERON:000115791.39gold quality
duodenumUBERON:000211491.24gold quality
mucosa of sigmoid colonUBERON:000499391.21gold quality
diaphragmUBERON:000110391.18gold quality
colonic mucosaUBERON:000031791.06gold quality
muscle organUBERON:000163090.93gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099190.65gold quality
right adrenal glandUBERON:000123390.44gold quality
large intestineUBERON:000005990.23gold quality
colonUBERON:000115590.19gold quality
left adrenal glandUBERON:000123490.09gold quality
right adrenal gland cortexUBERON:003582790.08gold quality
intestineUBERON:000016089.88gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-100618yes223.69
E-MTAB-6386no94.51
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting MRPL35, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-4481100.0066.421669
HSA-MIR-428299.9975.366408
HSA-MIR-548AW99.9972.573559
HSA-MIR-520G-5P99.9966.76658
HSA-MIR-4745-5P99.9865.951028
HSA-MIR-50799.9770.111915
HSA-MIR-55799.9670.011640
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-365899.9673.874379
HSA-MIR-767-5P99.9570.85993
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-144-3P99.9473.982698
HSA-MIR-335-3P99.9373.364958
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-129799.9173.413162
HSA-MIR-10523-5P99.9169.222038
HSA-MIR-627-3P99.9071.423316
HSA-MIR-95-5P99.8972.173973
HSA-MIR-129-5P99.8870.263273
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-806799.8669.592260
HSA-MIR-629-3P99.8567.991875
HSA-MIR-5003-3P99.8569.292517
HSA-MIR-4799-5P99.8270.602663
HSA-MIR-548AJ-5P99.7871.123085
HSA-MIR-548F-5P99.7871.023093
HSA-MIR-548G-5P99.7871.123085

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 71.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

  • High MRPL35 expression Cooperate in Colorectal Cancer. (PMID:30862482)
  • Knockdown of MRPL35 promotes cell apoptosis and inhibits cell proliferation in non-small-cell lung cancer. (PMID:38093266)
  • MRPL35 Induces Proliferation, Invasion, and Glutamine Metabolism in NSCLC Cells by Upregulating SLC7A5 Expression. (PMID:38987867)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomrpl35ENSDARG00000070589
mus_musculusMrpl35ENSMUSG00000052962
rattus_norvegicusMrpl35ENSRNOG00000008546
drosophila_melanogastermRpL35FBGN0038923
caenorhabditis_elegansWBGENE00010812

Protein

Protein identifiers

Large ribosomal subunit protein bL35mQ9NZE8 (reviewed: Q9NZE8)

Alternative names: 39S ribosomal protein L35, mitochondrial

All UniProt accessions (3): Q9NZE8, D3YTC1, S4R348

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

Subcellular location. Mitochondrion.

Similarity. Belongs to the bacterial ribosomal protein bL35 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9NZE8-11yes
Q9NZE8-22

RefSeq proteins (3): NP_001350711, NP_057706, NP_663619 (=MANE)

Domains & families (InterPro)

IDNameType
IPR019338Ribosomal_bL35mFamily
IPR021137Ribosomal_bL35-likeFamily
IPR037229Ribosomal_bL35_sfHomologous_superfamily

Pfam: PF01632

UniProt features (23 total): helix 6, sequence variant 6, strand 4, turn 4, transit peptide 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDBMethodResolution (Å)
7OF0ELECTRON MICROSCOPY2.2
7QI4ELECTRON MICROSCOPY2.21
8RRIELECTRON MICROSCOPY2.4
8QU5ELECTRON MICROSCOPY2.42
9OLFELECTRON MICROSCOPY2.46
7OF7ELECTRON MICROSCOPY2.5
7PO4ELECTRON MICROSCOPY2.56
6ZM6ELECTRON MICROSCOPY2.59
7O9MELECTRON MICROSCOPY2.6
7OF6ELECTRON MICROSCOPY2.6
9CN3ELECTRON MICROSCOPY2.62
7QI5ELECTRON MICROSCOPY2.63
7OF2ELECTRON MICROSCOPY2.7
7OF3ELECTRON MICROSCOPY2.7
7OF4ELECTRON MICROSCOPY2.7
8QU1ELECTRON MICROSCOPY2.74
9PR4ELECTRON MICROSCOPY2.77
9PRAELECTRON MICROSCOPY2.83
8ANYELECTRON MICROSCOPY2.85
6ZM5ELECTRON MICROSCOPY2.89
7QH7ELECTRON MICROSCOPY2.89
7ODRELECTRON MICROSCOPY2.9
7OF5ELECTRON MICROSCOPY2.9
8K2AELECTRON MICROSCOPY2.9
8OITELECTRON MICROSCOPY2.9
9PGLELECTRON MICROSCOPY2.9
9PGFELECTRON MICROSCOPY2.93
6VMIELECTRON MICROSCOPY2.96
6VLZELECTRON MICROSCOPY2.97
7QI6ELECTRON MICROSCOPY2.98

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NZE8-F176.580.54

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-5368286Mitochondrial translation initiation
R-HSA-5389840Mitochondrial translation elongation
R-HSA-5419276Mitochondrial translation termination
R-HSA-9937383Mitochondrial ribosome-associated quality control
R-HSA-392499Metabolism of proteins
R-HSA-5368287Mitochondrial translation
R-HSA-72766Translation

MSigDB gene sets: 193 (showing top): GNF2_CKS1B, GOBP_MITOCHONDRIAL_TRANSLATION, GNF2_RRM1, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GNF2_SMC4L1, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, GNF2_RFC3, GOCC_MITOCHONDRIAL_ENVELOPE, AAAGGGA_MIR204_MIR211, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GARY_CD5_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN

GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)

GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Mitochondrial translation4
Translation1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
peptidyltransferase activity1
translational initiation1
translational elongation1
translational termination1
macromolecule biosynthetic process1
protein metabolic process1
protein biosynthetic process1
mitochondrion1
translation1
mitochondrial gene expression1
structural molecule activity1
ribosome1
binding1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
organellar ribosome1
mitochondrial matrix1
organellar large ribosomal subunit1
mitochondrial ribosome1
mitochondrial protein-containing complex1
intracellular membraneless organelle1
protein-containing complex1

Protein interactions and networks

STRING

1430 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL35MRPS11P82912524
MRPL35MRPL39Q9NYK5467
MRPL35MTRF1O75570467
MRPL35SMPDL3BQ92485443
MRPL35PPIFP30405441
MRPL35MGAT4AQ9UM21438
MRPL35HCCSP53701436
MRPL35MTMR7Q9Y216421
MRPL35LIMD2Q9BT23418
MRPL35FAHP16930414
MRPL35MRPS23Q9Y3D9408
MRPL35SERTAD4Q9NUC0408
MRPL35CCNL1Q9UK58396
MRPL35PTGR3Q8N4Q0395
MRPL35KRCC1Q9NPI7394

IntAct

94 interactions, top by confidence:

ABTypeScore
H2AXPPM1Gpsi-mi:“MI:0914”(association)0.730
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
NSA2GNL2psi-mi:“MI:0914”(association)0.640
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL42GATCpsi-mi:“MI:0914”(association)0.530
MRPL13GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL16MRPL2psi-mi:“MI:0914”(association)0.530
ABT1ZNF316psi-mi:“MI:0914”(association)0.530
MRPL27MRPL33psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
Kif4UMPSpsi-mi:“MI:0914”(association)0.350
RACGAP1STX18psi-mi:“MI:0914”(association)0.350
MRPL50MRPL43psi-mi:“MI:0914”(association)0.350
MRPL9MRPL43psi-mi:“MI:0914”(association)0.350
MRPL1MRPL43psi-mi:“MI:0914”(association)0.350
HSCBRBP5psi-mi:“MI:0914”(association)0.350
psi-mi:“MI:0914”(association)0.350
MRPL35IPO5psi-mi:“MI:0914”(association)0.350
LUC7LCASC3psi-mi:“MI:0914”(association)0.350
TFAMMRPS14psi-mi:“MI:0914”(association)0.350
SSBP1MRPS14psi-mi:“MI:0914”(association)0.350
ATAD3ATMEM223psi-mi:“MI:0914”(association)0.350
rl36a_rl36l_humanIPO5psi-mi:“MI:0914”(association)0.350
PIPSLC1orf226psi-mi:“MI:0914”(association)0.350

BioGRID (144): MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Reconstituted Complex), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL47 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPL35 (Affinity Capture-MS), MRPL4 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R0IHP4, A2Y5T7, A2YLX7, A3BKF2, F4I933, F4K6X0, O22795, O64654, P16180, P17092, P23326, P30956, P31164, P41348, P41349, P42732, P51412, P82130, P82162, P82163, P82191, P82245, P82248, P82413, Q0JG75, Q1K4P1, Q3SZA9, Q5KQI6, Q5R9N0, Q6K471, Q84JH7, Q8RXX5, Q8VY88, Q8VZ55, Q8W463, Q940U6, Q94A65, Q9ASV6, Q9CQL6, Q9FFU1

Diamond homologs: Q21454, Q3SZA9, Q5R9N0, Q61JI9, Q8MS27, Q9CQL6, Q9NZE8

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL35“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Mitochondrial ribosome-associated quality control3061.4×2e-46
Mitochondrial translation2659.6×9e-40
Mitochondrial translation initiation2757.1×1e-40
Mitochondrial translation elongation2757.1×1e-40
Mitochondrial translation termination2749.4×6e-39
Translation2727.9×1e-31
Peptide chain elongation510.6×2e-03
Viral mRNA Translation510.6×2e-03

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation2860.8×1e-41
translation2025.7×4e-21
cytoplasmic translation511.6×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance29
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2426780NC_000002.11:g.(?85766411)(86564633_?)delPathogenic

SpliceAI

458 predictions. Top by Δscore:

VariantEffectΔscore
2:86206100:TTACA:Tacceptor_loss1.0000
2:86206101:TACAG:Tacceptor_loss1.0000
2:86206103:CAGG:Cacceptor_loss1.0000
2:86206104:A:AGacceptor_gain1.0000
2:86206104:A:Gacceptor_loss1.0000
2:86206105:G:GGacceptor_gain1.0000
2:86207181:A:AGacceptor_gain1.0000
2:86207181:AGAAT:Aacceptor_gain1.0000
2:86207182:G:GGacceptor_gain1.0000
2:86207182:GA:Gacceptor_gain1.0000
2:86207182:GAAT:Gacceptor_gain1.0000
2:86207182:GAATG:Gacceptor_gain1.0000
2:86210468:A:AGacceptor_gain1.0000
2:86210478:A:AGacceptor_gain1.0000
2:86210479:G:GGacceptor_gain1.0000
2:86210479:GGCT:Gacceptor_gain1.0000
2:86199515:GC:Gdonor_gain0.9900
2:86199532:AGGTC:Adonor_loss0.9900
2:86199533:GGTC:Gdonor_loss0.9900
2:86199534:GTC:Gdonor_loss0.9900
2:86199535:T:Gdonor_loss0.9900
2:86206104:AG:Aacceptor_gain0.9900
2:86206105:GG:Gacceptor_gain0.9900
2:86206105:GGA:Gacceptor_gain0.9900
2:86206193:G:GTdonor_gain0.9900
2:86206267:T:Gdonor_gain0.9900
2:86207177:TTTTA:Tacceptor_loss0.9900
2:86207178:TTTA:Tacceptor_loss0.9900
2:86207179:TTA:Tacceptor_loss0.9900
2:86207181:A:Cacceptor_loss0.9900

AlphaMissense

1202 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:86207289:T:CF114L0.992
2:86207291:T:AF114L0.992
2:86207291:T:GF114L0.992
2:86207313:T:AW122R0.987
2:86207313:T:CW122R0.987
2:86210551:C:GC150W0.979
2:86210574:T:CL158S0.978
2:86207315:G:CW122C0.977
2:86207315:G:TW122C0.977
2:86207290:T:CF114S0.976
2:86210594:T:CF165L0.975
2:86210596:C:AF165L0.975
2:86210596:C:GF165L0.975
2:86210584:G:AM161I0.974
2:86210584:G:CM161I0.974
2:86210584:G:TM161I0.974
2:86210597:T:AW166R0.974
2:86210597:T:CW166R0.974
2:86210550:G:AC150Y0.972
2:86210564:A:CS155R0.965
2:86210566:T:AS155R0.965
2:86210566:T:GS155R0.965
2:86207287:G:TR113M0.963
2:86207288:G:CR113S0.963
2:86207288:G:TR113S0.963
2:86210571:T:CL157P0.961
2:86207321:G:CR124S0.960
2:86207321:G:TR124S0.960
2:86210501:T:AW134R0.960
2:86210501:T:CW134R0.960

dbSNP variants (sampled 300 via entrez): RS1000006173 (2:86212059 T>C), RS1000034783 (2:86204088 G>A), RS1000370968 (2:86213580 C>T), RS1000631067 (2:86198223 C>A), RS1000639324 (2:86199771 C>G), RS1000710675 (2:86208384 G>GT), RS1000743118 (2:86208168 A>G), RS1000923042 (2:86201365 A>G), RS1001028818 (2:86208867 A>G), RS1001543472 (2:86209224 T>C), RS1001583271 (2:86209852 T>C,G), RS1001586422 (2:86203683 A>T), RS1001702257 (2:86204026 C>T), RS1001927887 (2:86210079 T>G), RS1002132325 (2:86197825 C>A,G,T)

Disease associations

OMIM: gene MIM:611841 | disease phenotypes: MIM:610250

GenCC curated gene-disease

Mondo (1): hereditary spastic paraplegia 31 (MONDO:0012453)

Orphanet (1): Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST003542_125Night sleep phenotypes5.000000e-06
GCST004730_1Facial emotion recognition (sad faces)2.000000e-06
GCST007267_289Systolic blood pressure7.000000e-11

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0008329facial emotion recognition measurement
EFO:0006335systolic blood pressure

MeSH disease descriptors (1)

DescriptorNameTree numbers
C565210Spastic Paraplegia 31, Autosomal Dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Acetaminophendecreases expression2
Cyclosporinedecreases expression2
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression1
arseniteaffects binding, increases reaction1
sodium arseniteincreases expression, increases abundance1
cobaltous chloridedecreases expression1
nickel sulfatedecreases expression1
isobutyl alcoholaffects cotreatment, decreases expression, increases abundance1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
K 7174decreases expression1
ICG 001increases expression1
Sunitinibdecreases expression1
Arsenicincreases expression, increases abundance1
Atrazinedecreases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Diethylhexyl Phthalateincreases expression1
Dinitrochlorobenzenedecreases expression1
Ethyl Methanesulfonatedecreases expression1
Eugenoldecreases expression1
Formaldehydedecreases expression1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Methyl Methanesulfonatedecreases expression1
Oxazolonedecreases expression1
Polycyclic Aromatic Hydrocarbonsaffects cotreatment, decreases expression, increases abundance1
Thiramdecreases expression1
Valproic Acidaffects expression1
Vitamin Edecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary spastic paraplegia 31