| Symbol: Name: ID: |
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type GFS:7692 |
| Gene name: | MMAA |
| Chromosome: | 4q31.1 |
| Previous Symbols: | |
| Previous Names: | methylmalonic aciduria (cobalamin deficiency) type A |
| Aliases: | cblA |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1923805 | Rat Genome Database ID: | RGD:1305035 |
| HGNC ID: | HGNC:18871 | RefSeq IDs: | NM_172250 |
| Entrez Gene ID: | 166785 | Ensembl Gene ID: | ENSG00000151611 |
| VEGA IDs: | UniProt ID: | Q8IVH4 | |
| UCSC ID: | uc002dtl.1 | OMIM ID: | 607481 |
| Pubmed: | PMID12438653 | ||
| CCDS IDs: | CCDSCCDS3766.1 | ||
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. (provided by RefSeq)
Function: Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.
Products for MMAA gene
| Catalog | Product Name | Application | Company |
| GFS:E07692 | methylmalonic aciduria (cobalamin deficiency) cblA type; ELISA kit | ELISA | n/a |
| GFS:A07692 | methylmalonic aciduria (cobalamin deficiency) cblA type; Anti | ANTIBODIES | n/a |
| GFS:P07692 | methylmalonic aciduria (cobalamin deficiency) cblA type; Protien | Protien | n/a |
