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. 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