| Gene Symbol | MMAA |
|---|---|
| Entrez Gene | 166785 |
| Alt Symbol | cblA |
| Species | Human |
| Gene Type | protein-coding |
| Description | methylmalonic aciduria (cobalamin deficiency) cblA type |
| Other Description | methylmalonic aciduria type A protein, mitochondrial |
| Swissprots | B3KX40 Q8IVH4 Q495G7 |
| Accessions | AAN77287 EAX05036 Q8IVH4 AK094722 AK126662 BAG54352 BC101178 AAI01179 BC101179 AAI01180 BC101180 AAI01181 BC101181 AAI01182 XM_011531684 XP_011529986 XM_011531685 XP_011529987 XM_011531686 XP_011529988 NM_172250 NP_758454 |
| 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. |
| Subcellular Location | Mitochondrion {ECO:0000305}. |
| Tissue Specificity | Widely expressed. Highest expression is observed in liver and skeletal muscle. |
methylmalonic aciduria (cobalamin deficiency) cblA type, ELISA Kit - MBS9323020 from MyBioSource
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Methylmalonic aciduria type A protein, ELISA Kit - MBS285726 from MyBioSource
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