MMADHC - metabolism of cobalamin associated D Gene

Homo sapiens

Also known as cblD; C2orf25; CL25022

Gene ID: 27249 | Gene type: protein coding

About MMADHC

Cytogenetic location: 2q23.2 Genomic coordinates (GRCh38): 2:149,569,637-149,587,775 (from NCBI)

This gene has 4 transcripts (splice variants), 288 orthologues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 49.1), esophagus (RPKM 43.5) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

MMADHC Products(1)

mRNA	Protein	Name
NM_015702.3	NP_056517.1	cobalamin trafficking protein CblD

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23415655	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cobalamin metabolic process	IDA IDA: Inferred from direct assay	22156578	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
located in mitochondrion	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

MMADHC Protein Structure

MMADHC

0
100
200
296 a.a.

Protein Preferred Names

Protein Names

cobalamin trafficking protein CblD

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

MMADHC Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MMADHC	Q9H3L0	TBC1D7	Homo sapiens	Q9P0N9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Homocystinuria

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

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

Combined Malonic And Methylmalonic Aciduria

CMAMMA	Combined Malonic And Methylmalonic Acidemia
Aciduria, Combined Malonic And Methylmalonic

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

Organic Acidemia

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

Transcobalamin Ii Deficiency

TCN2 DEFICIENCY	Tc Ii Deficiency
Transcobalamin Deficiency	Tc Deficiency
Inherited Deficiency Of Transcobalamin

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

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

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 B12 Deficiency

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

Vitamin Metabolic Disorder

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency	Sulfocysteinuria
Isolated Sulfite Oxidase Deficiency	ISOD
Encephalopathy Due To Sulfite Oxidase Deficiency

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

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency	Isovaleryl-Coa Dehydrogenase Deficiency
IVA	Ivd Deficiency
Acidemia, Isovaleric	Isovaleric Aciduria
Isovaleryl Coa Carboxylase Deficiency	Isovaleric Acid-Coa Dehydrogenase Deficiency

Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type	Methylmalonic Acidemia Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type	Methylmalonic Acidemia, Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type	Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb	Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
Methylmalonic Aciduria Type Cblb	MMAB
Methylmalonic Aciduria Type B	Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B	Aciduria, Methylmalonic, Cblb Type
Methylmalonic Acidemia	Methylmalonic Aciduria

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency	3-Ketothiolase Deficiency
3-Oxothiolase Deficiency	Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
Alpha-Methylacetoaceticaciduria	Mat Deficiency
T2 Deficiency	2-Methyl-3-Hydroxybutyricacidemia
Beta Ketothiolase Deficiency	Pseudo-Zellweger Syndrome
2-Methyl-3-Hydroxybutyric Acidemia	3-Ktd Deficiency
Peroxisomal Thiolase Deficiency	2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
3-Alpha-Oxothiolase Deficiency	Methylacetoacetyl-Coenzyme A Thiolase Deficiency
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated	Β-Ketothiolase Deficiency
Alpha Methylacetoacetic Aciduria	Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency	3KTD
Aciduria, Alpha-Methylacetoacetic	Deficiency Of Acetyl-Coa Acetyltransferase
Deficiency Of Acetyl-Coa Acyltransferase	Hepatic Methionine Adenosyltransferase Deficiency
Bifunctional Peroxisomal Enzyme Deficiency

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

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

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

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-RS08510	MMADHC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MMADHC	RGD	RGD:1303272
Felis catus	MMADHC	VGNC	VGNC:63534
Macaca mulatta	MMADHC	VGNC	VGNC:74825
Canis familiaris	MMADHC	VGNC	VGNC:103692
Bos taurus	MMADHC	VGNC	VGNC:31511
Mus musculus	MMADHC	MGD	MGI:1923786

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