MMAB Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MMAB |
| Official Name | metabolism of cobalamin associated B [Source:HGNC Symbol;Acc:HGNC:19331] |
| Ensembl ID | ENSG00000139428 |
| Bio databases IDs | |
| Aliases | metabolism of cobalamin associated B, ATP:cob(I)alamin adenosyltransferase, cilia and flagella associated protein 23 |
| Synonyms | 9130222L19Rik, ATR, cblB, CFAP23, cob, metabolism of cobalamin associated B, methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MMAB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cob(I)alamin adenosyltransferase
- vitamin binding
- binding protein
- enzyme
- protein binding
- ethanolamine utilization cob(I)yrinic acid a,c-diamide adenosyltransferase EutT
- tetrapyrrole binding
- Non-methyl alkyl or aryl group transferase
- Cobalamin adenosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- hereditary disorder
- methylmalonic aciduria cblB type
- insomnia
- methylmalonic acidemia
- prostate cancer
- prostatic carcinoma
- cataract
- age-related nuclear cataract disorder
- neuroticism
regulates
- cyanocobalamin
- HDL/cholesterol
role in cell
- survival
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MMAB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cobalamin metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- cobalamin binding
- cob(I)yrinic acid a,c-diamide adenosyltransferase activity
- transferase activity, transferring alkyl or aryl (other than methyl) groups