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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 enable FAD binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and demethylase activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in cytosol. Predicted to be active in 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mmachc Human Ortholog
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
Associated With mmachc Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A8KB89 250
UniProtKB:R4GE82 51
UniProtKB:F1QZ86 274
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations