MMUT - methylmalonyl-CoA mutase Gene

Also Known as MCM; MUT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4594

About MMUT

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:49,430,360-49,463,253 (from NCBI)

This gene has 1 transcript (splice variant), 206 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 48.6), kidney (RPKM 23.2) and 25 other tissues.

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]

MMUT Products (1)

mRNA	Protein	Name
NM_000255.4	NP_000246.2	methylmalonyl-CoA mutase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	20876572	GOA
enables cobalamin binding	IDA IDA: Inferred from direct assay	1978672	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	20876572	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20876572	GOA
enables methylmalonyl-CoA mutase activity	IDA IDA: Inferred from direct assay	24458	GOA
enables methylmalonyl-CoA mutase activity	IMP IMP: Inferred from mutant phenotype	27167370	GOA
enables modified amino acid binding	IDA IDA: Inferred from direct assay	20031578	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20876572	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	20876572	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in homocysteine metabolic process	IDA IDA: Inferred from direct assay	20031578	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	20876572	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	28943303	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	24458	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	28943303	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MMUT Protein Structure

MM_CoA_mutase

B12-binding

0
200
400
600
750 a.a.

Protein Preferred Names	Protein Names
methylmalonyl-CoA mutase, mitochondrial	methylmalonyl Coenzyme A mutase

MMUT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MMUT	P22033	ehd27213144	Homo sapiens	EBI-25865403	Y2H Array	32814053
Intra	MMUT	P22033	MMUT	Homo sapiens	P22033	X-Ray Diffraction	20876572
Intra	MMUT	P22033	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	MMUT	P22033	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	MMUT	P22033	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	MMUT	P22033	ccsb_9919	Homo sapiens	EBI-25847655	Validated Y2H	32814053
Intra	MMUT	P22033	ccsb_9919	Homo sapiens	EBI-25847655	Y2H Pooling	32814053
Intra	MMUT	P22033	ccsb_9919	Homo sapiens	EBI-25847655	Y2H Array	32814053
Intra	MMUT	P22033	ehd27213144	Homo sapiens	EBI-25865403	Validated Y2H	32814053
Intra	MMUT	P22033	ehd27213144	Homo sapiens	EBI-25865403	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

MMUT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80222	Methylmalonyl Coenzyme A mutase Antibody (YA295)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonyl-Coenzyme A Mutase Deficiency Methylmalonic Aciduria, Mut Type Methylmalonic Aciduria, Mut(0) Type Methylmalonic Acidemia Due To Methylmalonyl-Coa Mutase Deficiency Vitamin B12-Unresponsive Methylmalonic Aciduria Vitamin B12-Unresponsive Methylmalonic Acidemia Methylmalonic Aciduria, Mut Type Mma Due To Mcm Deficiency Methylmalonic Aciduria Mut Type Mcm Deficiency Methylmalonyl-Coa Mutase Deficiency Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 Complete Deficiency Of Methylmalonyl-Coa Mutase Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- Partial Deficiency Of Methylmalonyl-Coa Mutase Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- MMAM Methylmalonicaciduria Due To Methylmalonyl-Coa Mutase Deficiency Methylmalonic Aciduria Type Mut Methylmalonicaciduria Vitamin B12 Unresponsive Aciduria, Methylmalonic, Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Isolated Methylmalonic Acidemia	Isolated Methylmalonic Aciduria Methylmalonic Acidemia
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Developmental And Epileptic Encephalopathy 30	DEE30 Epileptic Encephalopathy, Early Infantile, 30 Eiee30 Developmental And Epileptic Encephalopathy, 30 Early Infantile Epileptic Encephalopathy 30 Encephalopathy, Epileptic, Early Infantile, Type 30
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Combined Oxidative Phosphorylation Deficiency 21	COXPD21 Combined Oxidative Phosphorylation Defect Type 21 Combined Oxidative Phosphorylation Deficiency, Type 21
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Vitamin Metabolic Disorder
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Methylmalonic Aciduria, Cbla Type	Methylmalonic Acidemia Cbla Type Methylmalonic Aciduria Cbla Type Methylmalonic Acidemia, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla Methylmalonic Aciduria Type Cbla MMAA Methylmalonic Aciduria Type A Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A Aciduria, Methylmalonic, Cbla Type Methylmalonic Aciduria Cbla Type
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Deafness, Autosomal Recessive 76	DFNB76 Autosomal Recessive Nonsyndromic Deafness 76 Autosomal Recessive Deafness 76 Deafness, Autosomal Recessive, 76 Deafness, Autosomal Recessive, Type 76
Cold-Induced Sweating Syndrome 3
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Esophageal Cancer	Esophageal Carcinoma Carcinoma Of Esophagus Esophageal Squamous Cell Carcinoma, Somatic Esophageal Carcinoma, Somatic Esophagus Cancer Gastric Cardia Adenocarcinoma Esophageal Neoplasms Esophageal Cancer, Somatic Cancer Of Esophagus Cancer Of Oesophagus Carcinoma Of Oesophagus Ca Lower Third Oesophagus Ca Middle Third Oesophagus Malignant Neoplasm Of Distal Third Of Esophagus Malignant Neoplasm Of Lower Third Of Oesophagus Malignant Neoplasm Of Middle Third Of Oesophagus Malignant Neoplasm Of Proximal Third Of Esophagus Malignant Neoplasm Of Upper Third Esophagus Malignant Tumor Of Abdominal Esophagus Malignant Tumor Of Distal Third Of Esophagus Malignant Tumor Of Proximal Third Of Esophagus Malignant Tumor Of The Middle Third Of The Esophagus ESCR Aerodigestive Tract Cancer Escc Esophageal Squamous Cell Carcinoma Cancer, Esophageal Malignant Neoplasm Of Esophagus Squamous Cell Carcinoma Of Esophagus Malignant Neoplasm Of Middle Third Of Esophagus
Prolapse Of Urethra	Urethrocele
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08564	MMUT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MMUT	VGNC	VGNC:68362
Macaca mulatta	MMUT	VGNC	VGNC:74947
Rattus norvegicus	MMUT	RGD	RGD:1587662
Canis familiaris	MMUT	VGNC	VGNC:43504
Bos taurus	MMUT	VGNC	VGNC:31764
Mus musculus	MMUT	MGD	MGI:97239
Others	MMUT	NCBI