MMUT methylmalonyl-CoA mutase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMUTprovided by HGNC
Official Full Name: methylmalonyl-CoA mutaseprovided by HGNC
Primary source: HGNC:HGNC:7526
See related: Ensembl:ENSG00000146085 MIM:609058; AllianceGenome:HGNC:7526
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCM; MUT
Summary: This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (49430360..49463253, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (49272390..49305330, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (49398073..49430966, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Title: Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Title: Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Title: A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Title: A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase.
Title: Naturally occurring cobalamin (B(12)) analogs can function as cofactors for human methylmalonyl-CoA mutase.
Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
Title: Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress.
Our study identified a novel, deleterious, heterozygous missense mutation in MUT gene in a couple and helps to consider the genetic counselling and prenatal diagnosis more seriously for this family with clinical phenotypes of organic acidemia.
Title: Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
These data demonstrate durable functional benefit of hMUT mRNA and support development of this new class of therapy for a devastating, pediatric disorder.
Title: Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia.
Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
Title: Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.
The gene therapy method has been described for restoring the methylmalonyl-CoA mutase activity in vitro in fibroblasts from methylmalonic aciduria patients.
Title: TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MedGen: C1855114 OMIM: 251000 GeneReviews: Isolated Methylmalonic Acidemia	Compare labs

EBI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:607719 (e-PCR)
- UniSTS:158270

MUT_8484 (e-PCR)
- UniSTS:467781

GDB:375093 (e-PCR)
- UniSTS:156998

GDB:375109 (e-PCR)
- UniSTS:157002

MUT (e-PCR)
- UniSTS:279392

SHGC-35796 (e-PCR)
- UniSTS:33637

RH103307 (e-PCR)
- UniSTS:97638

G19840 (e-PCR)
- UniSTS:27562

A002A07 (e-PCR)
- UniSTS:27563

RH70345 (e-PCR)
- UniSTS:61409

WI-20050 (e-PCR)
- UniSTS:21479

RH75687 (e-PCR)
- UniSTS:86007

GDB:391899 (e-PCR)
- UniSTS:157181

RH17726 (e-PCR)
- UniSTS:49150

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables cobalamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cobalamin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methylmalonyl-CoA mutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methylmalonyl-CoA mutase activity	IDA Inferred from Direct Assay more info	PubMed
enables methylmalonyl-CoA mutase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables modified amino acid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in homocysteine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in propionate metabolic process, methylmalonyl pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in succinyl-CoA biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: methylmalonyl-CoA mutase, mitochondrial

Names: methylmalonyl Coenzyme A mutase; methylmalonyl-CoA isomerase; methylmalonyl-CoA mutase c.*192delA; methylmalonyl-CoA mutase c.*51C>G; methylmalonyl-CoA mutase variant c.1495G>A; methylmalonyl-CoA mutase variant c.2011A>G; methylmalonyl-CoA mutase variant c.2150G>T; methylmalonyl-CoA mutase variant c.322C>T; methylmalonyl-CoA mutase variant c.613_615delGAA; methylmalonyl-CoA mutase variant c.636G>A; methylmalonyl-CoA mutase variant c.643G>A; mutant methylmalonyl CoA mutase

NP_000246.2

EC 5.4.99.2

XP_005249200.1

EC 5.4.99.2

XP_054211495.1

EC 5.4.99.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007100.1 RefSeqGene

Range

4887..37780

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000255.4 → NP_000246.2 methylmalonyl-CoA mutase, mitochondrial precursor

See identical proteins and their annotated locations for NP_000246.2

Status: REVIEWED

Source sequence(s)

AK292568, AK312611, AL590668

Consensus CDS

CCDS4924.1

UniProtKB/Swiss-Prot

A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64

UniProtKB/TrEMBL

A0A024RD82, A0A2S1PH09, A0A2S1PH16, A0A2S1PH20, A0A2S1PH23, A0A2S1PH31, A0A2S1PH34

Related

ENSP00000274813.3, ENST00000274813.4

Conserved Domains (1) summary

PRK09426
Location:41 → 744

PRK09426; methylmalonyl-CoA mutase; Reviewed

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

49430360..49463253 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249143.4 → XP_005249200.1 methylmalonyl-CoA mutase, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_005249200.1

UniProtKB/Swiss-Prot

A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64

UniProtKB/TrEMBL

A0A024RD82, A0A2S1PH09, A0A2S1PH16, A0A2S1PH20, A0A2S1PH23, A0A2S1PH31, A0A2S1PH34

Conserved Domains (1) summary

PRK09426
Location:41 → 744

PRK09426; methylmalonyl-CoA mutase; Reviewed

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

49272390..49305330 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355520.1 → XP_054211495.1 methylmalonyl-CoA mutase, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A8K953, P22033, Q5SYZ3, Q96B11, Q9UD64

UniProtKB/TrEMBL

A0A024RD82