MMAA - metabolism of cobalamin associated A Gene

Homo sapiens

Also known as cblA

Gene ID: 166785 | Gene type: protein coding

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
418 a.a.

Protein Preferred Names

Protein Names

methylmalonic aciduria type A protein, mitochondrial

methylmalonic aciduria (cobalamin deficiency) cblA type

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08507	MMAA Human Pre-designed siRNA Set A		/	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