QuickView for MMAA (gene)
- Gene Symbol:
- MMAA
Homo sapiens - Full name:
- methylmalonic aciduria (cobalamin deficiency) cblA type
- Synonyms:
- cblA, methylmalonic aciduria type A protein, mitochondrial, mutant adenosylcobalamin
- Genomic Location:
- Chr 4: 146779677-146796187
- Description:
-
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.
- Orthologs:
- Mus musculus , Rattus norvegicus , C. elegans , Macaca mulatta , Gallus gallus , Pan troglodytes , Canis lupus familiaris , Bos taurus , Danio rerio
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
4q31.21
GO Molecular Function
guanyl ribonucleotide binding | ribonucleoside binding | ribonucleotide binding | nucleotide binding | hydrolase activity | carbohydrate derivative binding | pyrophosphatase activity | catalytic activity | anion binding | nucleoside-triphosphatase activity | purine nucleotide binding | identical protein binding | ion binding | organic cyclic compound binding | GTPase activity | purine nucleoside binding | purine ribonucleoside triphosphate binding | protein binding | protein homodimerization activity | protein dimerization activity | GTP binding | hydrolase activity, acting on acid anhydrides | nucleoside binding | purine ribonucleotide binding | heterocyclic compound binding | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | guanyl nucleotide binding | small molecule binding
GO Biological Process
cobalamin metabolic process | vitamin biosynthetic process | cellular process | organic cyclic compound metabolic process | cellular aromatic compound metabolic process | cobalamin biosynthetic process | cellular nitrogen compound biosynthetic process | tetrapyrrole biosynthetic process | cellular nitrogen compound metabolic process | cofactor metabolic process | cellular biosynthetic process | nitrogen compound metabolic process | cofactor biosynthetic process | small molecule metabolic process | biosynthetic process | aromatic compound biosynthetic process | drug metabolic process | vitamin metabolic process | metabolic process | organic substance metabolic process | heterocycle metabolic process | cellular metabolic process
GO Cellular Component
mitochondrial matrix | intracellular membrane-bounded organelle | cell | cytoplasm | intracellular organelle | mitochondrion | membrane-bounded organelle | organelle | membrane-enclosed lumen | intracellular
