MMADHC - metabolism of cobalamin associated D Gene

Also Known as cblD; C2orf25; CL25022

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27249

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23415655 GOA
Biological Process GO Annotation Evidence References Source
involved in cobalamin metabolic process IDA
IDA: Inferred from direct assay
22156578 GOA
Cellular Component GO Annotation Evidence References 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

MMADHC: Methylmalonic aciduria and homocystinuria type D protein (21 - 294)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others MMADHC NCBI