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 act upstream of or within cobalamin metabolic process. Predicted to be active in mitochondrion. 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 | Methylmalonic aciduria and homocystinuria, cblD type | 277410 |
| Homocystinuria-megaloblastic anemia, cblD type | 620952 | ||
| Methylmalonic aciduria, cblD type | 620953 |
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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mmadhc-201
(1)
|
Ensembl | 1,464 nt |
Interactions and Pathways
No data available
Plasmids
No data available