MMAB - metabolism of cobalamin associated B Gene

Homo sapiens

Also known as ATR; cob; cblB; CFAP23

Gene ID: 326625 | Gene type: protein coding

About MMAB

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,553,715-109,573,504 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 6.8), adrenal (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

MMAB Products(1)

mRNA	Protein	Name
NM_052845.4	NP_443077.1	corrinoid adenosyltransferase MMAB precursor

MMAB Protein Structure

Cob_adeno_trans

0
100
200
250 a.a.

Protein Preferred Names

Protein Names

corrinoid adenosyltransferase MMAB

corrinoid adenosyltransferase

ATP:co(I)rrinoid adenosyltransferase MMAB

Related Diseases

Diseases

Alias

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

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Isolated Methylmalonic Acidemia

Isolated Methylmalonic Aciduria

Methylmalonic Acidemia

Combined Malonic And Methylmalonic Aciduria

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

Organic Acidemia

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

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

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

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

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

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-RS08508	MMAB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MMAB	VGNC	VGNC:74796
Mus musculus	MMAB	MGD	MGI:1924947
Felis catus	MMAB	VGNC	VGNC:63532
Canis familiaris	MMAB	VGNC	VGNC:57126
Rattus norvegicus	MMAB	RGD	RGD:1596242
Bos taurus	MMAB	VGNC	VGNC:57127