Gene

mmut

ID
ZDB-GENE-010430-3
Name
methylmalonyl CoA mutase
Symbol
mmut Nomenclature History
Previous Names
  • mut
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to have methylmalonyl-CoA mutase activity. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Luciani et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mmut Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Alliance Methylmalonic aciduria, mut(0) type 251000
Associated With mmut Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
Domain IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
Domain IPR006158 Cobalamin (vitamin B12)-binding domain
Domain IPR006159 Methylmalonyl-CoA mutase, C-terminal
Homologous_superfamily IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic
Homologous_superfamily IPR036724 Cobalamin-binding domain superfamily
Domain Details Per Protein
Protein Length Cobalamin-binding domain superfamily Cobalamin (vitamin B12)-binding domain Cobalamin (vitamin B12)-dependent enzyme, catalytic Methylmalonyl-CoA mutase, alpha/beta chain, catalytic Methylmalonyl-CoA mutase, alpha chain, catalytic Methylmalonyl-CoA mutase, C-terminal
UniProtKB:A5D6S3 757
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