MMAA - metabolism of cobalamin associated A Gene

Also Known as cblA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 166785

About MMAA

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:145,619,385-145,660,033 (from NCBI)

This gene has 13 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 3.7), kidney (RPKM 2.7) and 25 other tissues.

Summary

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MMAA Products (2)

mRNA	Protein	Name
NM_001375644.1	NP_001362573.1	methylmalonic aciduria type A protein, mitochondrial precursor
NM_172250.3	NP_758454.1	methylmalonic aciduria type A protein, mitochondrial precursor

MMAA Protein Structure

ArgK

0
100
200
300
400
418 a.a.

Protein Preferred Names	Protein Names
methylmalonic aciduria type A protein, mitochondrial	methylmalonic aciduria (cobalamin deficiency) cblA type

MMAA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MMAA	Q8IVH4	H1-1	Homo sapiens	Q02539	Crosslink	30021884
Intra	MMAA	Q8IVH4	MMUT	Homo sapiens	P22033	Anti Tag CoIP	20876572
Intra	MMAA	Q8IVH4	MMAA	Homo sapiens	Q8IVH4	X-Ray Diffraction	20876572
Intra	MMAA	Q8IVH4	MMUT	Homo sapiens	P22033	GTPase Assay	20876572
Intra	MMAA	Q8IVH4	MMUT	Homo sapiens	P22033	Anti Tag CoIP	28497574
Intra	MMAA	Q8IVH4	MMUT	Homo sapiens	P22033	GMS	28497574
Intra	MMAA	Q8IVH4	MMUT	Homo sapiens	P22033	GTPase Assay	28497574
Intra	MMAA	Q8IVH4	MMAA	Homo sapiens	Q8IVH4	GMS	20876572

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Adenosylcobalamin Deficiency	Vitamin B12-Responsive Methylmalonic Acidemia Vitamin B12-Responsive Methylmalonic Aciduria Defect In The Transport Or Synthesis Of Adenosyl-Cobalamin Methylmalonic Aciduria, Vitamin B12-Responsive Adenosylcobalamin Synthesis Defect
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Isolated Methylmalonic Acidemia	Isolated Methylmalonic Aciduria Methylmalonic Acidemia
Glycogen Storage Disease Ixc	GSD9C Glycogen Storage Disease Type Ixc Gsd Ixc Glycogen Storage Disease Type 9c Glycogenosis Type 9c Glycogenosis Type Ixc Gsd Type 9c Gsd Type Ixc Glycogen Storage Disease 9c Alg Autosomal Liver Glycogenosis Gsd-Ixc Storage Disease, Glycogen, Type Ixc
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
Transcobalamin Ii Deficiency	TCN2 DEFICIENCY Tc Ii Deficiency Transcobalamin Deficiency Tc Deficiency Inherited Deficiency Of Transcobalamin
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Combined Malonic And Methylmalonic Aciduria	CMAMMA Combined Malonic And Methylmalonic Acidemia Aciduria, Combined Malonic And Methylmalonic
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
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
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
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
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
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
Vitamin Metabolic Disorder
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
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
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
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

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-RS08507	MMAA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MMAA	VGNC	VGNC:57130
Rattus norvegicus	MMAA	RGD	RGD:1305035
Felis catus	MMAA	VGNC	VGNC:63531
Macaca mulatta	MMAA	VGNC	VGNC:74795
Mus musculus	MMAA	MGD	MGI:1923805
Bos taurus	MMAA	VGNC	VGNC:57121
Others	MMAA	NCBI