Gene

MMAB

Species
Homo sapiens
Symbol
MMAB
Name
metabolism of cobalamin associated B
Synonyms
  • aquocob(I)alamin vitamin B12s adenosyltransferase
  • ATP:co(I)rrinoid adenosyltransferase MMAB
Biotype
protein coding gene
Automated Description
Enables cobalamin binding activity and corrinoid adenosyltransferase activity. Involved in cobalamin metabolic process. Located in mitochondrion. Implicated in inherited metabolic disorder and methylmalonic acidemia cblB type.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12213
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
109.554M109.556M109.558M109.560M109.562M109.564M109.566M109.568M109.570M109.572M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions