Gene
mmadhcb
- ID
- ZDB-GENE-040704-50
- Name
- metabolism of cobalamin associated Db
- Symbol
- mmadhcb Nomenclature History
- Previous Names
-
- mmadhc
- zgc:91819
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be involved in cobalamin metabolic process. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911853 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblD | Alliance | Homocystinuria, cblD type, variant 1 | 277410 |
| methylmalonic aciduria and homocystinuria type cblD | Alliance | Methylmalonic aciduria and homocystinuria, cblD type | 277410 |
| methylmalonic aciduria and homocystinuria type cblD | Alliance | Methylmalonic aciduria, cblD type, variant 2 | 277410 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019362 | Methylmalonic aciduria and homocystinuria type D protein |
Domain Details Per Protein
| Protein | Length | Methylmalonic aciduria and homocystinuria type D protein |
|---|---|---|
|
UniProtKB:B0UYB6
|
297 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
mmadhc-201
(1)
|
Havana | 1464 nt |
Interactions and Pathways
No data available
Plasmids
No data available