SUMF2

gene
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Also known as DKFZp566I1024

Summary

SUMF2 (sulfatase modifying factor 2, HGNC:20415) is a protein-coding gene on chromosome 7p11.2, encoding Inactive C-alpha-formylglycine-generating enzyme 2 (Q8NBJ7). Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form.

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 25870 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 123 total — 1 pathogenic
  • MANE Select transcript: NM_015411

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20415
Approved symbolSUMF2
Namesulfatase modifying factor 2
Location7p11.2
Locus typegene with protein product
StatusApproved
AliasesDKFZp566I1024
Ensembl geneENSG00000129103
Ensembl biotypeprotein_coding
OMIM607940
Entrez25870

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 20 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron

ENST00000275607, ENST00000342190, ENST00000395435, ENST00000395436, ENST00000413756, ENST00000413952, ENST00000423763, ENST00000434526, ENST00000436782, ENST00000437307, ENST00000438133, ENST00000447501, ENST00000451338, ENST00000452216, ENST00000461912, ENST00000483327, ENST00000498777, ENST00000529457, ENST00000531229, ENST00000650735, ENST00000651354, ENST00000651586, ENST00000652303, ENST00000911043, ENST00000911044, ENST00000911045, ENST00000911046, ENST00000966154, ENST00000966155, ENST00000966156

RefSeq mRNA: 9 — MANE Select: NM_015411 NM_001042468, NM_001042469, NM_001042470, NM_001130069, NM_001146333, NM_001366647, NM_001366648, NM_001366649, NM_015411

CCDS: CCDS43588, CCDS43589, CCDS47589, CCDS55111, CCDS5524, CCDS94107

Canonical transcript exons

ENST00000434526 — 9 exons

ExonStartEnd
ENSE000035654055607810256078186
ENSE000035681495607683456076889
ENSE000035987405607952856080670
ENSE000036426385607458656074736
ENSE000036452595607299756073111
ENSE000036729215607836456078508
ENSE000036839115607417456074218
ENSE000036904035606848256068638
ENSE000039016615606428656064378

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 98.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.0856 / max 302.6621, expressed in 1826 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
7877472.07291826
787760.9777640
2044510.03507

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130298.59gold quality
stromal cell of endometriumCL:000225598.32gold quality
body of pancreasUBERON:000115098.23gold quality
gall bladderUBERON:000211097.87gold quality
endocervixUBERON:000045897.86gold quality
islet of LangerhansUBERON:000000697.82gold quality
pancreasUBERON:000126497.82gold quality
pancreatic ductal cellCL:000207997.54gold quality
right adrenal gland cortexUBERON:003582797.47gold quality
right adrenal glandUBERON:000123397.46gold quality
mucosa of stomachUBERON:000119997.29gold quality
rectumUBERON:000105297.26gold quality
right lobe of thyroid glandUBERON:000111997.24gold quality
right lungUBERON:000216797.21gold quality
descending thoracic aortaUBERON:000234597.21gold quality
minor salivary glandUBERON:000183097.19gold quality
metanephros cortexUBERON:001053397.19gold quality
left adrenal glandUBERON:000123497.18gold quality
right coronary arteryUBERON:000162597.18gold quality
skin of legUBERON:000151197.13gold quality
right ovaryUBERON:000211897.12gold quality
left ovaryUBERON:000211997.08gold quality
ectocervixUBERON:001224997.08gold quality
left adrenal gland cortexUBERON:003582597.07gold quality
body of stomachUBERON:000116197.06gold quality
smooth muscle tissueUBERON:000113597.04gold quality
body of uterusUBERON:000985397.03gold quality
left lobe of thyroid glandUBERON:000112096.99gold quality
skin of abdomenUBERON:000141696.98gold quality
thoracic aortaUBERON:000151596.95gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-MTAB-7303no1080.37
E-MTAB-4850no591.63
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting SUMF2, 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-3613-3P100.0076.367965
HSA-MIR-188-3P100.0068.761240
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-430699.7270.503630
HSA-MIR-120099.7170.421838
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-613499.6365.681537
HSA-MIR-426199.5970.303415
HSA-MIR-7106-5P99.5367.473574
HSA-MIR-444199.4966.563216
HSA-MIR-312399.4767.152693
HSA-MIR-361299.4566.021333
HSA-MIR-65099.4565.771309
HSA-MIR-391599.4568.491905
HSA-MIR-519D-5P99.4169.302057
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-6731-5P99.2867.422375

Literature-anchored findings (GeneRIF, showing 6)

  • structural analysis of human pFGE by X-ray crystallography [pFGE] (PMID:15687489)
  • pFGE (SUMF2) is the paralog of the Calpha-formylglycine-generating enzyme (PMID:15708861)
  • SUMF2 interacts with sulphatase-modifying factor 1 to regulate sulphatase activities. (PMID:15962010)
  • pFGE is retained in the ER through its C-terminal tetrapeptide PGEL, a noncanonical variant of the classic KDEL ER-retention signal. (PMID:18266766)
  • SUMF2 interacted with IL-13 and inhibited IL-13 secretion in bronchial smooth muscle cells and lymphocytes, which was independent of IL-13 glycosylation (PMID:19739097)
  • Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan. (PMID:35317099)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriosumf2ENSDARG00000069497
mus_musculusSumf2ENSMUSG00000025538
rattus_norvegicusSumf2ENSRNOG00000000922

Paralogs (1): SUMF1 (ENSG00000144455)

Protein

Protein identifiers

Inactive C-alpha-formylglycine-generating enzyme 2Q8NBJ7 (reviewed: Q8NBJ7)

Alternative names: Paralog of formylglycine-generating enzyme, Sulfatase-modifying factor 2

All UniProt accessions (15): Q8NBJ7, A0A494C1B1, A8MXB9, C9J660, C9JL30, E9PBT8, E9PG02, F8WA42, F8WCW9, F8WES7, F8WEV7, F8WEX5, H7C3B2, J3KQJ1, J3QT17

UniProt curated annotations — full annotation on UniProt →

Function. Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.

Subunit / interactions. Homodimer and heterodimer with SUMF1.

Subcellular location. Endoplasmic reticulum lumen.

Tissue specificity. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in kidney, liver and placenta.

Domain organisation. The non-canonical ER retention motif mediates retention of the protein in the endoplasmic reticulum.

Similarity. Belongs to the sulfatase-modifying factor family.

Isoforms (5)

UniProt IDNamesCanonical?
Q8NBJ7-11yes
Q8NBJ7-22
Q8NBJ7-33
Q8NBJ7-55
Q8NBJ7-44

RefSeq proteins (9): NP_001035933, NP_001035934, NP_001035935, NP_001123541, NP_001139805, NP_001353576, NP_001353577, NP_001353578, NP_056226* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR005532SUMF_domDomain
IPR016187CTDL_foldHomologous_superfamily
IPR042095SUMF_sfHomologous_superfamily
IPR051043Sulfatase_Mod_Factor_KinaseFamily

Pfam: PF03781

UniProt features (46 total): strand 12, binding site 8, helix 7, mutagenesis site 5, splice variant 4, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1, region of interest 1, short sequence motif 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1Y4JX-RAY DIFFRACTION1.86

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NBJ7-F191.370.85

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 (8): 232; 234; 236; 194; 195; 208; 210; 229

Disulfide bonds (1): 156–290

Glycosylation sites (1): 191

Mutagenesis-validated functional residues (5):

PositionPhenotype
156abolishes interaction with and inhibition of sumf1. can still form homodimers.
290abolishes interaction with and inhibition of sumf1. can still form homodimers.
298–301abolishes endoplasmic reticulum retention.
298–299does not affect endoplasmic reticulum retention.
298does not affect endoplasmic reticulum retention.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

IDPathway
R-HSA-1663150The activation of arylsulfatases
R-HSA-9840310Glycosphingolipid catabolism
R-HSA-1430728Metabolism
R-HSA-163841Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
R-HSA-1660662Glycosphingolipid metabolism
R-HSA-392499Metabolism of proteins
R-HSA-428157Sphingolipid metabolism
R-HSA-556833Metabolism of lipids
R-HSA-597592Post-translational protein modification

MSigDB gene sets: 79 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, REACTOME_SPHINGOLIPID_METABOLISM, GCM_NF2, ACEVEDO_LIVER_CANCER_UP, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, YAUCH_HEDGEHOG_SIGNALING_PARACRINE_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, GCM_DENR, REACTOME_GAMMA_CARBOXYLATION_HYPUSINYLATION_HYDROXYLATION_AND_ARYLSULFATASE_ACTIVATION, REACTOME_METABOLISM_OF_LIPIDS, ATF6_TARGET_GENES, DLX2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (3): identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)

Reactome top-level categories

Rollup of top-7 pathways:

CategoryPathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation1
Glycosphingolipid metabolism1
Post-translational protein modification1
Sphingolipid metabolism1
Metabolism of lipids1
Metabolism1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
protein binding1
cation binding1
binding1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
endoplasmic reticulum1
intracellular organelle lumen1

Protein interactions and networks

STRING

1141 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SUMF2ZNF713Q8N859651
SUMF2PHKG1Q16816642
SUMF2CCT6AP40227600
SUMF2NIPSNAP2O75323562
SUMF2CHCHD2Q9Y6H1519
SUMF2ERP44Q9BS26498
SUMF2LMAN1P49257495
SUMF2SUMF1Q8NBK3489
SUMF2PSPHP78330467
SUMF2MXRA7P84157463
SUMF2FOXRED2Q8IWF2452
SUMF2ATRAIDQ6UW56450
SUMF2SEPTIN14Q6ZU15445
SUMF2TMEM161BQ8NDZ6443
SUMF2NUPR2A6NF83442

IntAct

69 interactions, top by confidence:

ABTypeScore
SUMF1SGSHpsi-mi:“MI:0914”(association)0.710
SUMF2psi-mi:“MI:0915”(physical association)0.660
SUMF1SUMF2psi-mi:“MI:0915”(physical association)0.640
SUMF2SUMF1psi-mi:“MI:0915”(physical association)0.640
SUMF1SUMF2psi-mi:“MI:0403”(colocalization)0.640
SUMF2APBB2psi-mi:“MI:0915”(physical association)0.560
SUMF2CTSDpsi-mi:“MI:0915”(physical association)0.560
SUMF2psi-mi:“MI:0915”(physical association)0.560
GRNSUMF2psi-mi:“MI:0915”(physical association)0.560
SUMF2HSPB1psi-mi:“MI:0915”(physical association)0.560
SUMF2PMP22psi-mi:“MI:0915”(physical association)0.560
SUMF2TTRpsi-mi:“MI:0915”(physical association)0.560
SUMF2WFS1psi-mi:“MI:0915”(physical association)0.560
SUMF2KIF1Bpsi-mi:“MI:0915”(physical association)0.560
HTTSUMF2psi-mi:“MI:0915”(physical association)0.560

BioGRID (78): SUMF2 (Two-hybrid), ANKRD40 (Affinity Capture-MS), APOD (Affinity Capture-MS), CLU (Affinity Capture-MS), WDR34 (Affinity Capture-MS), APOD (Affinity Capture-MS), ANKRD40 (Affinity Capture-MS), SUMF2 (Affinity Capture-MS), SUMF2 (Co-fractionation), SUMF2 (Co-fractionation), SUMF2 (Co-fractionation), GRHPR (Co-fractionation), SUMF2 (Co-fractionation), SUMF2 (Co-fractionation), ABHD11 (Co-fractionation)

ESM2 similar proteins: A0R5N0, A0R6E0, D1A7C3, G7CFI3, I6Y8I5, O69671, P0A4Y5, P0A5F6, P16954, P28604, P45798, P71741, P9WIQ8, P9WIQ9, P9WQ18, P9WQ19, P9WQ24, P9WQ25, Q0AA26, Q0BU54, Q11EX1, Q1D654, Q1QJC0, Q210H1, Q216J6, Q28MN2, Q2IYX0, Q2J6Q9, Q2RR72, Q2W2Q6, Q2YB47, Q3AYE2, Q3SMH1, Q46TF2, Q47SE7, Q58CP2, Q59832, Q5N4W5, Q5NXV7, Q5RCR5

Diamond homologs: A0A0H3MBJ2, D1A7C3, O69671, P0DPS7, Q0P5L5, Q58CP2, Q5RCR5, Q7AJA5, Q7D513, Q822R1, Q8NBJ7, Q8R0F3, Q9F3C7, Q9PKP3, A0R5N0, G7CFI3, Q8BPG6, Q8NBK3, I6Y8I5, V9TSX0, Q7RX33, O94632, O34722

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance86
Likely benign11
Benign3

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2678NM_015411.4(SUMF2):c.536-2delPathogenic

SpliceAI

1515 predictions. Top by Δscore:

VariantEffectΔscore
7:56064374:GCTAG:Gdonor_gain1.0000
7:56064375:C:Gdonor_gain1.0000
7:56064377:AGG:Adonor_loss1.0000
7:56064378:GGT:Gdonor_loss1.0000
7:56068478:GCA:Gacceptor_loss1.0000
7:56068479:CAG:Cacceptor_loss1.0000
7:56068480:AG:Aacceptor_gain1.0000
7:56068481:G:Aacceptor_loss1.0000
7:56068481:GG:Gacceptor_gain1.0000
7:56068481:GGA:Gacceptor_gain1.0000
7:56068481:GGAA:Gacceptor_gain1.0000
7:56074748:A:Gdonor_gain1.0000
7:56076787:A:AGacceptor_gain1.0000
7:56078097:A:AGacceptor_gain1.0000
7:56078097:ATCAG:Aacceptor_gain1.0000
7:56078100:A:AGacceptor_gain1.0000
7:56078100:AG:Aacceptor_gain1.0000
7:56078100:AGG:Aacceptor_gain1.0000
7:56078101:G:GAacceptor_gain1.0000
7:56078101:GG:Gacceptor_gain1.0000
7:56078101:GGG:Gacceptor_gain1.0000
7:56078101:GGGA:Gacceptor_gain1.0000
7:56078101:GGGAA:Gacceptor_gain1.0000
7:56078184:ACGGT:Adonor_loss1.0000
7:56078185:CGGT:Cdonor_loss1.0000
7:56078186:GGT:Gdonor_loss1.0000
7:56078187:G:GGdonor_gain1.0000
7:56078187:GTA:Gdonor_loss1.0000
7:56078188:T:Cdonor_loss1.0000
7:56064379:G:GGdonor_gain0.9900

AlphaMissense

1954 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:56078396:T:AW237R0.996
7:56078396:T:CW237R0.996
7:56074210:T:AW126R0.995
7:56074210:T:CW126R0.995
7:56073049:A:CS93R0.994
7:56073051:C:AS93R0.994
7:56073051:C:GS93R0.994
7:56074212:G:CW126C0.994
7:56074212:G:TW126C0.994
7:56074643:A:CS148R0.993
7:56074645:C:AS148R0.993
7:56074645:C:GS148R0.993
7:56074669:T:GC156W0.993
7:56078398:G:CW237C0.993
7:56078398:G:TW237C0.993
7:56079569:T:CF288S0.993
7:56074708:G:CW169C0.992
7:56074708:G:TW169C0.992
7:56074706:T:AW169R0.991
7:56074706:T:CW169R0.991
7:56078386:C:AN233K0.991
7:56078386:C:GN233K0.991
7:56078392:G:CW235C0.991
7:56078392:G:TW235C0.991
7:56074716:C:AA172D0.990
7:56076850:G:CW184C0.990
7:56076850:G:TW184C0.990
7:56078454:C:TS256F0.990
7:56068635:T:CF74S0.989
7:56074668:G:AC156Y0.989

dbSNP variants (sampled 300 via entrez): RS1000370165 (7:56073776 C>T), RS1000385302 (7:56081391 G>A), RS1000650644 (7:56079652 A>G), RS1000681720 (7:56079853 A>G), RS1000705531 (7:56075433 A>G), RS1000759113 (7:56075652 T>C,G), RS1000776892 (7:56080079 C>T), RS1000831888 (7:56085417 G>A), RS1000925152 (7:56063059 G>A), RS1000956411 (7:56088151 C>T), RS1000975607 (7:56063258 T>A), RS1001668431 (7:56080770 T>A), RS1001689290 (7:56088315 C>A), RS1001764386 (7:56086164 T>A), RS1001987926 (7:56073458 A>G)

Disease associations

OMIM: gene MIM:607940 | disease phenotypes: MIM:272200

GenCC curated gene-disease

Mondo (1): mucosulfatidosis (MONDO:0010088)

Orphanet (1): Multiple sulfatase deficiency (Orphanet:585)

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST007382_32Plasma free amino acid levels (adjusted for twenty other PFAAs)1.000000e-25
GCST007385_29Plasma free amino acid levels2.000000e-21
GCST012251_16Macular telangiectasia type 23.000000e-07
GCST012252_7Macular telangiectasia type 26.000000e-09

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005134amino acid measurement
EFO:0009774serine measurement
EFO:1002009macular telangiectasia type 2

MeSH disease descriptors (1)

DescriptorNameTree numbers
D052517Multiple Sulfatase Deficiency DiseaseC10.228.140.163.100.435.825.850.750; C16.320.565.189.435.825.850.750; C16.320.565.398.641.803.925.750; C16.320.565.595.554.825.850.750; C18.452.132.100.435.825.850.750; C18.452.584.563.641.803.925.750; C18.452.648.189.435.825.850.750; C18.452.648.398.641.803.925.750; C18.452.648.595.554.825.850.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, increases expression2
sodium arsenitedecreases expression, increases abundance2
Benzo(a)pyreneaffects methylation, increases methylation2
Cisplatinaffects expression, affects cotreatment, increases expression2
Ozoneaffects expression, increases abundance, affects cotreatment, increases oxidation2
Valproic Acidincreases expression2
aristolochic acid Idecreases expression1
triphenyl phosphateaffects expression1
beta-lapachoneincreases expression1
arseniteaffects binding, increases reaction1
tetrabromobisphenol Adecreases expression1
methacrylaldehydeincreases oxidation, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
calfactantaffects cotreatment, increases expression1
K 7174increases expression1
ICG 001increases expression1
bisphenol Bincreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
hexabrominated diphenyl ether 153decreases expression1
jinfukangaffects cotreatment, increases expression1
bisphenol AFincreases expression1
Resveratrolaffects cotreatment, increases expression1
Decitabineaffects expression1
Acroleinaffects cotreatment, increases oxidation1
Air Pollutantsaffects expression, increases abundance1
Arsenicdecreases expression, increases abundance1
Doxorubicindecreases expression1
Gallic Aciddecreases expression1
Ivermectindecreases expression1
Plant Extractsincreases expression, affects cotreatment1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01841983Not specifiedCOMPLETEDProject A: Integrated Approaches to Improving the Health and Safety of Health Care Workers
NCT02699190Not specifiedCOMPLETEDLeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369Not specifiedRECRUITINGThe Myelin Disorders Biorepository Project
NCT03333200Not specifiedRECRUITINGLongitudinal Study of Neurodegenerative Disorders
NCT03831737Not specifiedCOMPLETEDTeam-based Ergonomics Educational Model for Workplace WELLNESS Improvement: A Pilot Study
NCT06036693Not specifiedRECRUITINGMPS (RaDiCo Cohort) (RaDiCo-MPS)
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mucosulfatidosis