GUCD1
geneOn this page
Also known as MGC1842LLN4
Summary
GUCD1 (guanylyl cyclase domain containing 1, HGNC:14237) is a protein-coding gene on chromosome 22q11.23, encoding Protein GUCD1 (Q96NT3).
Predicted to be involved in liver regeneration and response to cAMP.
Source: NCBI Gene 83606 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 37 total
- MANE Select transcript:
NM_001284254
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14237 |
| Approved symbol | GUCD1 |
| Name | guanylyl cyclase domain containing 1 |
| Location | 22q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC1842, LLN4 |
| Ensembl gene | ENSG00000138867 |
| Ensembl biotype | protein_coding |
| OMIM | 619171 |
| Entrez | 83606 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000398245, ENST00000402766, ENST00000404664, ENST00000407471, ENST00000407973, ENST00000435822, ENST00000447813, ENST00000468170, ENST00000480272, ENST00000490810, ENST00000490922, ENST00000493099, ENST00000621833, ENST00000894495, ENST00000951439
RefSeq mRNA: 8 — MANE Select: NM_001284254
NM_001284251, NM_001284252, NM_001284253, NM_001284254, NM_001284255, NM_001284256, NM_001284257, NM_031444
CCDS: CCDS33621, CCDS63426, CCDS63427, CCDS74831, CCDS74832, CCDS74833
Canonical transcript exons
ENST00000435822 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000935754 | 24547908 | 24548073 |
| ENSE00000935755 | 24546914 | 24547005 |
| ENSE00001667374 | 24554949 | 24555138 |
| ENSE00001789037 | 24540438 | 24543097 |
| ENSE00003545500 | 24548917 | 24549001 |
| ENSE00003684891 | 24543842 | 24544083 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 98.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7014 / max 374.5581, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193383 | 19.5298 | 1802 |
| 193385 | 5.8487 | 1725 |
| 193386 | 1.4065 | 1026 |
| 193384 | 1.3770 | 981 |
| 193382 | 0.5394 | 285 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 98.82 | gold quality |
| oocyte | CL:0000023 | 98.51 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.36 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.02 | gold quality |
| secondary oocyte | CL:0000655 | 97.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.75 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.40 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.33 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.20 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.20 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.16 | gold quality |
| liver | UBERON:0002107 | 97.15 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.87 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.67 | gold quality |
| muscle of leg | UBERON:0001383 | 96.67 | gold quality |
| small intestine | UBERON:0002108 | 96.54 | gold quality |
| blood | UBERON:0000178 | 96.50 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.39 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.35 | gold quality |
| body of stomach | UBERON:0001161 | 96.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.17 | gold quality |
| transverse colon | UBERON:0001157 | 96.12 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.10 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.09 | gold quality |
| lower esophagus | UBERON:0013473 | 96.09 | gold quality |
| duodenum | UBERON:0002114 | 95.98 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.97 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 18.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
85 targeting GUCD1, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
Literature-anchored findings (GeneRIF, showing 2)
- The expression and function of a ubiquitous protein, GUCD1, were characterized, it might have a role in regulating normal and abnormal cell growth in the liver. (PMID:24743017)
- miR-370 suppressed Hepatocellular carcinoma cell metastasis and epithelial-mesenchymal transition via regulating GUCD1. (PMID:30799589)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gucd1 | ENSDARG00000068438 |
| mus_musculus | Gucd1 | ENSMUSG00000033416 |
| rattus_norvegicus | Gucd1 | ENSRNOG00000049952 |
| drosophila_melanogaster | CG13760 | FBGN0040375 |
Protein
Protein identifiers
Protein GUCD1 — Q96NT3 (reviewed: Q96NT3)
Alternative names: Guanylyl cyclase domain-containing protein 1, Protein LLN4
All UniProt accessions (6): A0A087WVD9, B4DL90, B5MCF3, E7EX77, E9PGZ7, Q96NT3
UniProt curated annotations — full annotation on UniProt →
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96NT3-1 | 1 | yes |
| Q96NT3-2 | 2 | |
| Q96NT3-3 | 3 |
RefSeq proteins (8): NP_001271180, NP_001271181, NP_001271182, NP_001271183, NP_001271184, NP_001271185, NP_001271186, NP_113632 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018616 | GUCD1 | Family |
Pfam: PF09778
UniProt features (4 total): splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96NT3-F1 | 86.92 | 0.67 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 177 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, MORI_IMMATURE_B_LYMPHOCYTE_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, BURTON_ADIPOGENESIS_5, SENESE_HDAC3_TARGETS_DN, NUYTTEN_EZH2_TARGETS_DN, LU_EZH2_TARGETS_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, BAKKER_FOXO3_TARGETS_UP, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_WITH_H4K20ME1_MARK, RAO_BOUND_BY_SALL4_ISOFORM_A, PECE_MAMMARY_STEM_CELL_UP, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN
GO Biological Process (2): response to cAMP (GO:0051591), liver regeneration (GO:0097421)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to purine-containing compound | 1 |
| response to organophosphorus | 1 |
| response to oxygen-containing compound | 1 |
| liver development | 1 |
| animal organ regeneration | 1 |
| binding | 1 |
Protein interactions and networks
STRING
344 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GUCD1 | ZNF652 | Q9Y2D9 | 603 |
| GUCD1 | LRRC75B | Q2VPJ9 | 591 |
| GUCD1 | C22orf15 | Q8WYQ4 | 577 |
| GUCD1 | DCTN4 | Q9UJW0 | 499 |
| GUCD1 | DRICH1 | Q6PGQ1 | 474 |
| GUCD1 | ADD3 | Q9UEY8 | 432 |
| GUCD1 | ZNF70 | Q9UC06 | 393 |
| GUCD1 | PALMD | Q9NP74 | 390 |
| GUCD1 | GSTT4 | A0A1W2PR19 | 376 |
| GUCD1 | DDTL | A6NHG4 | 371 |
| GUCD1 | CLU | P10909 | 371 |
| GUCD1 | SMIM24 | O75264 | 364 |
| GUCD1 | TM4SF4 | P48230 | 351 |
| GUCD1 | RGL4 | Q8IZJ4 | 349 |
| GUCD1 | CLUL1 | Q15846 | 348 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GUCD1 | NGLY1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NGLY1 | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CRX | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF4 | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GUCD1 | CTH | psi-mi:“MI:0915”(physical association) | 0.560 |
| GUCD1 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GUCD1 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GUCD1 | CRX | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTH | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GUCD1 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PCNA | GUCD1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IMPDH1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP1 | CLASP2 | psi-mi:“MI:0914”(association) | 0.350 |
| AMIGO1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP1 | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
| GUCD1 | HNRNPA1L2 | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP1 | PRORP | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A1 | MEN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (145): GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-7 (Two-hybrid), GUCD1 (Affinity Capture-MS), GUCD1 (Affinity Capture-MS), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid), GUCD1 (Two-hybrid)
ESM2 similar proteins: A1A5C7, A5D7H1, A6H7A0, A8MUP2, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, F1LTR1, O43688, O94925, P17553, P52875, P55244, P56703, P57791, Q16763, Q1RML1, Q28D01, Q2HJ61, Q3UHH2, Q3ZCD7, Q4L208, Q4R8V4, Q4V899, Q5R6I6, Q5R890, Q5SP67, Q66H54, Q86YN1, Q8BZH0, Q8BZI6, Q8K593, Q8R4D1, Q8VDI9, Q91ZH7, Q96H72, Q96NT3, Q9DAX2
Diamond homologs: Q8BZI6, Q8L870, Q96NT3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NEDD4 | “down-regulates quantity by destabilization” | GUCD1 | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1038 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:24543101:C:CC | acceptor_gain | 1.0000 |
| 22:24543107:G:GC | acceptor_gain | 1.0000 |
| 22:24543834:GCACT:G | donor_loss | 1.0000 |
| 22:24543836:ACTCA:A | donor_loss | 1.0000 |
| 22:24543837:CTCA:C | donor_loss | 1.0000 |
| 22:24543838:TCA:T | donor_loss | 1.0000 |
| 22:24543839:CA:C | donor_loss | 1.0000 |
| 22:24543840:A:AC | donor_gain | 1.0000 |
| 22:24543840:ACGG:A | donor_loss | 1.0000 |
| 22:24543840:ACGGT:A | donor_gain | 1.0000 |
| 22:24543841:C:CG | donor_gain | 1.0000 |
| 22:24543841:CG:C | donor_gain | 1.0000 |
| 22:24543841:CGG:C | donor_gain | 1.0000 |
| 22:24543841:CGGT:C | donor_gain | 1.0000 |
| 22:24543841:CGGTC:C | donor_gain | 1.0000 |
| 22:24544079:CTGTG:C | acceptor_gain | 1.0000 |
| 22:24544084:C:CC | acceptor_gain | 1.0000 |
| 22:24546908:GCTC:G | donor_loss | 1.0000 |
| 22:24546909:CTCA:C | donor_loss | 1.0000 |
| 22:24546910:TCACC:T | donor_loss | 1.0000 |
| 22:24546911:CAC:C | donor_loss | 1.0000 |
| 22:24546912:A:AC | donor_gain | 1.0000 |
| 22:24546912:A:T | donor_loss | 1.0000 |
| 22:24546913:C:CA | donor_loss | 1.0000 |
| 22:24546913:C:CC | donor_gain | 1.0000 |
| 22:24547001:AAGGA:A | acceptor_gain | 1.0000 |
| 22:24547002:AGGA:A | acceptor_gain | 1.0000 |
| 22:24547004:GA:G | acceptor_gain | 1.0000 |
| 22:24547006:C:CC | acceptor_gain | 1.0000 |
| 22:24547904:TCA:T | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000063217 (22:24542467 T>C), RS1000070163 (22:24555808 G>C), RS1000258656 (22:24542112 C>T), RS1000351879 (22:24554766 C>G,T), RS1000384492 (22:24555086 T>C), RS1000441110 (22:24547443 C>A,T), RS1000506272 (22:24553152 T>G), RS1000654850 (22:24553521 C>G), RS1000680578 (22:24546446 G>C), RS1001016809 (22:24546186 C>T), RS1001066748 (22:24543614 G>A), RS1001249058 (22:24549519 T>C), RS1001385860 (22:24556002 C>A,G,T), RS1002073795 (22:24544831 G>A), RS1002271642 (22:24544468 G>A)
Disease associations
OMIM: gene MIM:619171 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): cerebellar ataxia (MONDO:0000437)
Orphanet (1): Rare ataxia (Orphanet:102002)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_6 | Acne (severe) | 6.000000e-07 |
| GCST90013407_62 | Liver enzyme levels (gamma-glutamyl transferase) | 5.000000e-32 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002524 | Cerebellar Ataxia | C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol S | decreases methylation, affects cotreatment, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| titanium dioxide | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment, increases expression | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, increases oxidation | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ozone | increases expression, increases oxidation, increases abundance, affects cotreatment | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Gold Compounds | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
146 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00950196 | PHASE4 | COMPLETED | Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia |
| NCT04107740 | PHASE4 | COMPLETED | C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration |
| NCT01970098 | PHASE3 | COMPLETED | A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970111 | PHASE3 | COMPLETED | An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970124 | PHASE3 | COMPLETED | A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970137 | PHASE3 | COMPLETED | A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT02889302 | PHASE3 | COMPLETED | An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT03408080 | PHASE3 | ACTIVE_NOT_RECRUITING | Open Pilot Trial of BHV-4157 |
| NCT03701399 | PHASE3 | ACTIVE_NOT_RECRUITING | Troriluzole in Adult Participants With Spinocerebellar Ataxia |
| NCT03901638 | PHASE3 | TERMINATED | Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy |
| NCT07040137 | PHASE3 | RECRUITING | Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration |
| NCT00034242 | PHASE2 | COMPLETED | High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration |
| NCT00202397 | PHASE2 | COMPLETED | Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia |
| NCT00863538 | PHASE2 | COMPLETED | Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01004016 | PHASE2 | COMPLETED | A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01350440 | PHASE2 | COMPLETED | Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia |
| NCT02540655 | PHASE2 | COMPLETED | Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia |
| NCT03932669 | PHASE2 | COMPLETED | Effect of Nilotinib in Cerebellar Ataxia Patients |
| NCT04301284 | PHASE2 | WITHDRAWN | Study of CAD-1883 for Spinocerebellar Ataxia |
| NCT05125666 | PHASE2 | UNKNOWN | Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection |
| NCT06397274 | PHASE2 | NOT_YET_RECRUITING | Stemchymal® for Polyglutamine Spinocerebellar Ataxia |
| NCT00683943 | PHASE1 | COMPLETED | Lithium Treatment for Patients With Spinocerebellar Ataxia Type I |
| NCT02287064 | PHASE1 | UNKNOWN | An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias |
| NCT05157802 | PHASE1 | ACTIVE_NOT_RECRUITING | Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia |
| NCT01104649 | PHASE2/PHASE3 | COMPLETED | Efficacy of Riluzole in Hereditary Cerebellar Ataxia |
| NCT02960893 | PHASE2/PHASE3 | COMPLETED | Trial in Adult Participants With Spinocerebellar Ataxia (SCA) |
| NCT00244361 | PHASE1/PHASE2 | COMPLETED | Effectiveness of Rituximab in Pediatric OMS Patients. |
| NCT01649687 | PHASE1/PHASE2 | COMPLETED | Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells |
| NCT01958177 | PHASE1/PHASE2 | UNKNOWN | Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acne, cerebellar ataxia