MMADHC Gene Summary [Human]
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | MMADHC |
| Official Name | metabolism of cobalamin associated D [Source:HGNC Symbol;Acc:HGNC:25221] |
| Ensembl ID | ENSG00000168288 |
| Bio databases IDs | |
| Aliases | metabolism of cobalamin associated D |
| Synonyms | 2010311D03Rik, C2orf25, CblD, CL25022, HMAD, MACD, MAHCD, metabolism of cobalamin associated D, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, RGD1303272 |
| 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 MMADHC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Methylmalonic aciduria and homocystinuria type D protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- methylmalonic aciduria with homocystinuria cblD type
- inborn disorder of cobalamin metabolism and transport
- cblD type homocystinuria variant 1
- methylmalonic aciduria with homocystinuria cblC type
- cblD type methylmalonic aciduria variant 2
- infection by HIV-1
regulated by
- TGF beta
- beta-estradiol
regulates
- cyanocobalamin
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MMADHC 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
- cytoplasm
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding