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 enable cobalamin binding activity and methylmalonyl-CoA mutase activity. Predicted to be involved in propionate metabolic process, methylmalonyl pathway. Predicted to be active in mitochondrion. Used to study methylmalonic acidemia. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
methylmalonic acidemia	mmut^zh602/zh602 (TL, TU)	standard conditions	Luciani et al., 2020

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