Methylmalonic Aciduria Type A Protein, Mitochondrial

Preferred Label : Methylmalonic Aciduria Type A Protein, Mitochondrial;

NCIt synonyms : MMAA; EC 3.6.-.-;

NCIt definition : Methylmalonic aciduria type A protein, mitochondrial (418 aa, 47 kDa) is encoded by the human MMAA gene. This protein is involved in GTP hydrolysis, cobalamin transport and adenosylcobalamin (AdoCbl) synthesis.;

Details

Origin ID

C203791;

UMLS CUI

C1566624;

OMIM relation
- Metabolism of cobalamin associated a [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- MMAA protein, human [MeSH Supplementary Concept]
- MMAA protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- MMAA Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Mitochondrial Matrix [NCIt concept]
gene_product_has_biochemical_function
- GTPase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Homodimerization [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Metabolic Process [NCIt concept]
- Protein Dimerization [NCIt concept]
- Transmembrane Transport [NCIt concept]

Keyword's position in hierarchy(ies) :

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