Cobalamin trafficking protein CblD (MMADHC)
Homo sapiens — UniProt Q9H3L0
Data last refreshed: (UniProt release unknown)
Key facts
Cobalamin trafficking protein CblD (MMADHC) is a protein from Homo sapiens identified by UniProt accession Q9H3L0, 296 residues long. MolForge cross-references it against 0 known binders and 50 disease associations.
- UniProt accession: Q9H3L0; gene symbol MMADHC.
- Organism: Homo sapiens.
- Length: 296 amino acids.
- Top disease associations (Open Targets): Methylmalonic acidemia with homocystinuria, type cblD, methylmalonic aciduria and homocystinuria type cblD and Methylmalonic acidemia with homocystinuria.
- 3D structure: AlphaFold model available.
Target properties
| Protein name | Cobalamin trafficking protein CblD |
|---|---|
| UniProt accession | Q9H3L0 |
| Gene | MMADHC |
| Organism | Homo sapiens |
| Length | 296 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 (50)
Diseases linked to this target (Open Targets).
- Methylmalonic acidemia with homocystinuria, type cblD · score 0.81
- methylmalonic aciduria and homocystinuria type cblD · score 0.80
- Methylmalonic acidemia with homocystinuria · score 0.75
- vitamin B12-responsive methylmalonic acidemia, type cblDv2 · score 0.55
- methylmalonic aciduria and homocystinuria type cblC · score 0.50
- Methylmalonic acidemia with homocystinuria, type cblC · score 0.50
- inborn disorder of cobalamin metabolism and transport · score 0.37
- methylcobalamin deficiency type cblDv1 · score 0.37
- reticulocyte measurement · score 0.26
- reticulocyte count · score 0.24
3D Structure (1)
Experimental (PDB) and predicted (AlphaFold) structures for this protein.
| Structure | Source | Method | Mean pLDDT | Resolution (Å) |
|---|---|---|---|---|
| AF-Q9H3L0-F1 | alphafold | PREDICTED | 76.78 | — |
Experimental structures are not indexed in MolForge yet — search RCSB PDB for Q9H3L0.
Amino-acid sequence (296 residues)
Frequently asked questions
Answers are generated from the structured data on this page, not written by hand.
Which diseases are associated with MMADHC?
The strongest Open Targets associations for MMADHC are Methylmalonic acidemia with homocystinuria, type cblD, methylmalonic aciduria and homocystinuria type cblD, Methylmalonic acidemia with homocystinuria, vitamin B12-responsive methylmalonic acidemia, type cblDv2 and methylmalonic aciduria and homocystinuria type cblC.
How long is the MMADHC protein?
The Homo sapiens MMADHC protein (UniProt Q9H3L0) is 296 amino acids long.
Browse: Targets: M · all protein targets A–Z · drugs A–Z.
Sources
- UniProtKB Q9H3L0 — name, gene, function, sequence, keywords (CC BY 4.0)
- AlphaFold DB Q9H3L0 — 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.