MMACHC - metabolism of cobalamin associated C Gene

Homo sapiens

Also known as cblC

Gene ID: 25974 | Gene type: protein coding

About MMACHC

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:45,500,300-45,513,382 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 13.1), kidney (RPKM 10.6) and 25 other tissues.

Summary

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a Bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

MMACHC Products(2)

mRNA	Protein	Name
NM_001330540.2	NP_001317469.1	cyanocobalamin reductase / alkylcobalamin dealkylase isoform 2
NM_015506.3	NP_056321.2	cyanocobalamin reductase / alkylcobalamin dealkylase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables FAD binding	IDA IDA: Inferred from direct assay	19700356	GOA
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IDA IDA: Inferred from direct assay	19700356	GOA
enables demethylase activity	IDA IDA: Inferred from direct assay	19801555	GOA
enables glutathione binding	IDA IDA: Inferred from direct assay	22642810	GOA
enables oxidoreductase activity	IDA IDA: Inferred from direct assay	19801555	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23415655	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	22642810	GOA
enables transferase activity, transferring alkyl or aryl (other than methyl) groups	EXP EXP: Inferred from Experiment	19801555	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cobalamin metabolic process	IDA IDA: Inferred from direct assay	19700356	GOA
involved in cobalamin metabolic process	IMP IMP: Inferred from mutant phenotype	23825108	GOA
involved in demethylation	IDA IDA: Inferred from direct assay	19801555	GOA
involved in glutathione metabolic process	IDA IDA: Inferred from direct assay	19801555	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23270877	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	23270877	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

Protein Preferred Names

Protein Names

cyanocobalamin reductase / alkylcobalamin dealkylase

alkylcobalamin:glutathione S-alkyltransferase

MMACHC Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MMACHC	Q9Y4U1	MTR	Homo sapiens	Q99707	PLA	23825108
Intra	MMACHC	Q9Y4U1	CCT6B	Homo sapiens	Q92526	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Disorders Of Intracellular Cobalamin Metabolism

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

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

D-Minus Hemolytic Uremic Syndrome

Atypical Hus	Atypical Hemolytic Uremic Syndrome
Hus, Atypical	Ahus

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

Macular Dystrophy, Concentric Annular

Mcdca

Maculopathy, Bull'S Eye

Retinitis Pigmentosa 91

Benign Concentric Annular Macular Dystrophy	RP91
Macular Dystrophy, Concentric Annular, Formerly	Mcdca, Formerly
Macular Dystrophy, Benign Concentric Annular, Formerly	Bcamd, Formerly
Bcamd	Macular Dystrophy, Benign Concentric Annular
Macular Dystrophy, Concentric Annular	Mcdca
Retinitis Pigmentosa, Type 91

Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome	Haemolytic-Uraemic Syndrome
Hus	Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes
Typical Haemolytic Uraemic Syndrome	Gasser Syndrome
Hus - [Haemolytic Uraemic Syndrome]

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3	Methylmalonic Acidemia With Homocystinuria, Type Cblx
MAHCX	Intellectual Developmental Disorder, X-Linked 3
Xlid3	Mrx3
Methylmalonic Acidemia And Homocysteinemia Cblx Type	Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
Methylmalonic Aciduria With Homocystinuria, Type Cblx	Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Methylmalonic Aciduria And Homocysteinemia, Cblx Type	Methylmalonic Aciduria And Homocysteinemia , Cblx Type
Mental Retardation, X-Linked, Type 3

C Syndrome

Opitz Trigonocephaly Syndrome	Trigonocephaly
Trigonocephaly Syndrome	Trigonocephaly C Syndrome
Opitz C Trigonocephaly	Opitz Trigonocephaly C Syndrome
Otcs	CSYN

Kidney Cortex Necrosis

Renal Cortical Necrosis

Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations

MCPH2	Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations
Microcephaly, Primary Autosomal Recessive, 2

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

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

Vitamin Metabolic Disorder

Vitamin B12 Deficiency

Cobalamin Deficiency	Hypocobalaminemia
Vitamin B 12 Deficiency	Cyanocobalamin Deficiency
Deficiency Of Vitamin B12

Mucolipidosis Iii Gamma

Pseudo-Hurler Polydystrophy	Mucolipidosis Type Iii Gamma
Ml Iii Gamma	Mucolipidosis Iiic
Ml Iiic	Mucolipidosis Type Iii
Mucolipidosis Iii, Complementation Group C	Mucolipidosis Iii, Iranian Variant Form
Mucolipidosis Iii, Variant Form	Mucolipidosis Iii
Mucolipidosis Iii, Variant	Ml 3 Gamma
Mucolipidosis Type 3 Gamma	Mucolipidosis Type Iii Complementation Group C
MLIIIC	Variant Pseudo-Hurler Polydystrophy
Mucolipidosis, Type Iii, Gamma

Partial Optic Atrophy

Inflammatory Bowel Disease 28

Early Onset Autosomal Recessive Inflammatory Bowel Disease 28	Ibd28
Inflammatory Bowel Disease 28, Autosomal Recessive

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome	ODRMD
Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency	Ornithine Transcarbamylase Deficiency
Otc Deficiency	Ornithine Carbamoyltransferase Deficiency Disease
OTCD	Deficiency Of Citrulline Phosphorylase
Oct Deficiency	Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
Deficiency, Ornithine Carbamoyltransferase

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency	Acads Deficiency
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency	Scadh Deficiency
Short-Chain Acyl-Coa Dehydrogenase Deficiency	Deficiency Of Butyryl-Coa Dehydrogenase
Short Chain Acyl-Coa Dehydrogenase Deficiency	ACADSD
Scadd	Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of	Acyl-Coa Dehydrogenase Short-Chain Deficiency

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

Malignant Hypertension

Hypertension, Malignant

Hypertension Malignant

Citrullinemia, Classic

Citrullinemia	Classic Citrullinemia
Argininosuccinate Synthetase Deficiency	Ass Deficiency
Citrullinemia Type I	CTLN1
Citrullinuria	Citrullinemia, Type I
Argininosuccinic Acid Synthetase Deficiency	Ctnl1
Citrullinemia 1	Deficiency Of Citrulline-Aspartate Ligase
Cit	Argininosuccinate Synthase Deficiency
Argininosuccinic Acid Synthase Deficiency	Citrullinemia Type 1
Citrullinemia Classical

Carnitine Deficiency, Systemic Primary

Carnitine Uptake Defect	Renal Carnitine Transport Defect
Systemic Primary Carnitine Deficiency	CDSP
Systemic Carnitine Deficiency	Carnitine Transporter Deficiency
Cud	Primary Carnitine Deficiency
Carnitine Uptake Deficiency	Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
Carnitine Deficiency, Primary	Systemic Primary Carnitine Deficiency Disease
Deficiency Of Plasma-Membrane Carnitine Transporter	Scd
Carnitine Transporter, Plasma-Membrane, Deficiency Of	Carnitine Transport Defect
Carnitine Plasma-Membrane Transporter Deficiency	Carnitine Transporter Defect
Spcd

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

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria	Mcc Deficiency
Methylcrotonyl-Coa Carboxylase Deficiency	Bmcc Deficiency
3-Mcc Deficiency	3mcc
Mccd	3mcc Deficiency
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Mcc
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency	Deficiency Of Methylcrotonoyl-Coa Carboxylase
3-Methyl Crotonyl-Coa Carboxylase Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

Urea Cycle Disorder

Urea Cycle Disorders	Urea Cycle Disorders, Inborn
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Disorder Of Urea Cycle Metabolism
Urea Cycle Defect	Ucd
Disorder Of The Urea Cycle Metabolism	Disorder Of Urea Cycle
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Ammonia Metabolic Disorder

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08509	MMACHC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MMACHC	VGNC	VGNC:63533
Macaca mulatta	MMACHC	VGNC	VGNC:74818
Mus musculus	MMACHC	MGD	MGI:1914346
Rattus norvegicus	MMACHC	RGD	RGD:1310806
Canis familiaris	MMACHC	VGNC	VGNC:108229
Bos taurus	MMACHC	VGNC	VGNC:57129