2. Gene
  3. MMAB - metabolism of cobalamin associated B Gene

MMAB - metabolism of cobalamin associated B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables cobalamin binding IDA
IDA: Inferred from direct assay
28497574 GOA
enables corrinoid adenosyltransferase activity EXP
EXP: Inferred from Experiment
15913339 GOA
enables corrinoid adenosyltransferase activity IDA
IDA: Inferred from direct assay
12514191 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25910212 GOA
enables transferase activity, transferring alkyl or aryl (other than methyl) groups IDA
IDA: Inferred from direct assay
12514191 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cobalamin metabolic process IDA
IDA: Inferred from direct assay
12514191 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

MMAB Protein Structure

Cob_adeno_trans

Cob_adeno_trans: Cobalamin adenosyltransferase (58 - 227)

  • 0
  • 100
  • 200
  • 250 a.a.
Protein Preferred Names Protein Names

corrinoid adenosyltransferase MMAB

corrinoid adenosyltransferase

ATP:co(I)rrinoid adenosyltransferase MMAB

MMAB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra MMAB Q96EY8 NEK7 Homo sapiens Q8TDX7
Y2H Array
32814053
Intra MMAB Q96EY8 NEK7 Homo sapiens Q8TDX7
Y2H Pooling
32814053
Intra MMAB Q96EY8 NEK7 Homo sapiens Q8TDX7
Validated Y2H
32814053
Intra MMAB Q96EY8 CBY2 Homo sapiens Q8NA61-2
Y2H Bait-Prey Pool
25910212
Intra MMAB Q96EY8 CBY2 Homo sapiens Q8NA61-2
Y2H Array
25910212
Intra MMAB Q96EY8 CBY2 Homo sapiens Q8NA61-2
Validated Y2H
25910212
Intra MMAB Q96EY8 DBT Homo sapiens P11182
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08508 MMAB Human Pre-designed siRNA Set A Pre-designed Sets / 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