Gene
mmachc
- ID
- ZDB-GENE-030131-3167
- Name
- metabolism of cobalamin associated C
- Symbol
- mmachc Nomenclature History
- Previous Names
-
- fc29d04
- si:zfos-47c12.1
- wu:fc29d04
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have FAD binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and demethylase activity. Involved in embryonic viscerocranium morphogenesis. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1073 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblC | Alliance | Methylmalonic aciduria and homocystinuria, cblC type | 277400 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblC | mmachchg13/hg13 | standard conditions | Paz et al., 2023 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR032037 | Methylmalonic aciduria and homocystinuria type C family |
Domain Details Per Protein
| Protein | Length | Methylmalonic aciduria and homocystinuria type C family |
|---|---|---|
|
UniProtKB:Q5RFU5
|
250 | |
|
UniProtKB:A0A8M9PSN9
|
249 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
mmachc-202
(1)
|
Ensembl | 1,063 nt | ||
| mRNA |
mmachc-201
(1)
|
Ensembl | 1,329 nt |
Interactions and Pathways
No data available
Plasmids
No data available