Cyanocobalamin reductase / alkylcobalamin dealkylase (MMACHC)
Homo sapiens — UniProt Q9Y4U1
Data last refreshed: (UniProt release unknown)
Key facts
Cyanocobalamin reductase / alkylcobalamin dealkylase (MMACHC) is a protein from Homo sapiens identified by UniProt accession Q9Y4U1, 282 residues long. MolForge cross-references it against 0 known binders and 82 disease associations.
- UniProt accession: Q9Y4U1; gene symbol MMACHC.
- Organism: Homo sapiens.
- Length: 282 amino acids.
- Top disease associations (Open Targets): Methylmalonic acidemia with homocystinuria, type cblC, methylmalonic aciduria and homocystinuria type cblC and Methylmalonic acidemia with homocystinuria.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Cyanocobalamin reductase / alkylcobalamin dealkylase |
|---|---|
| UniProt accession | Q9Y4U1 |
| Gene | MMACHC |
| Organism | Homo sapiens |
| Length | 282 residues |
| Molecular weight | — |
| EC numbers | — |
| Target class | — |
| Subcellular location | — |
| Keywords | — |
Druggability
Target tractability assessment (Open Targets + pocket analysis). No approved drug
| Druggability tier | MEDIUM |
|---|---|
| Druggability score | — |
| Pocket score | — |
| Max clinical phase | — |
Disease associations (82)
Diseases linked to this target (Open Targets).
- Methylmalonic acidemia with homocystinuria, type cblC · score 0.86
- methylmalonic aciduria and homocystinuria type cblC · score 0.84
- Methylmalonic acidemia with homocystinuria · score 0.83
- genetic disorder · score 0.49
- disorders of vitamin D metabolism · score 0.45
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency · score 0.42
- Abnormality of metabolism/homeostasis · score 0.34
- homocystinuria · score 0.33
- atypical hemolytic-uremic syndrome · score 0.33
- Retinal dystrophy · score 0.27
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q9Y4U1-F1 | alphafold | PREDICTED | 85.60 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9Y4U1.
Amino-acid sequence (282 residues)
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with MMACHC?
The strongest Open Targets associations for MMACHC are Methylmalonic acidemia with homocystinuria, type cblC, methylmalonic aciduria and homocystinuria type cblC, Methylmalonic acidemia with homocystinuria, genetic disorder and disorders of vitamin D metabolism.
How long is the MMACHC protein?
The Homo sapiens MMACHC protein (UniProt Q9Y4U1) is 282 amino acids long.
Browse: Targets: M · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q9Y4U1 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q9Y4U1 — predicted 3D structure (CC BY 4.0)
- Open Targets Platform — disease associations and tractability (CC0)
How this page is built: methodology · editorial policy & corrections.
For research and educational use only — not medical advice. This page is compiled automatically from public databases. It is not written or reviewed by a clinician. Do not start, stop or change any treatment based on it; consult a qualified healthcare professional. Spotted an error? See our corrections policy or email hello@molforge.ai.