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
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mmadhcb Human Ortholog
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
Associated With mmadhcb Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:Q6TNS4 189
UniProtKB:B0UYB6 297
UniProtKB:Q6GMH4 297
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