MMAB - metabolism of cobalamin associated B Gene

Also Known as ATR; cob; cblB; CFAP23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 326625

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 Verweise 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 Verweise 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 Verweise
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

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS08508 MMAB Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22238 Mmab Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28760 Mmab Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others MMAB NCBI