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MMAA Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q8IVH4 |
|---|
| Gene ID | 166785 |
|---|---|
| Other Names | Methylmalonic aciduria type A protein, mitochondrial, 36--, MMAA |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | MMAA (HGNC:18871) |
|---|---|
| Function | GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572, PubMed:21138732, PubMed:28943303). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis (PubMed:28497574, PubMed:20876572). Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) (PubMed:28497574, PubMed:20876572). Plays a dual role as both a protectase and a reactivase for MMUT (PubMed:21138732, PubMed:28943303). Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) (PubMed:21138732, PubMed:28943303). Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP (PubMed:21138732, PubMed:28943303). |
| Cellular Location | Mitochondrion {ECO:0000269|PubMed:28943303, ECO:0000305}. Cytoplasm |
| Tissue Location | Widely expressed. Highest expression is observed in liver and skeletal muscle |
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Provided below are standard protocols that you may find useful for product applications.
Background
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.
References
Honjo, R.S., et al. Genet Test Mol Biomarkers 13(2):181-183(2009)Merinero, B., et al. J. Inherit. Metab. Dis. 31(1):55-66(2008)Horster, F., et al. Pediatr. Res. 62(2):225-230(2007)Padovani, D., et al. J. Biol. Chem. 281(26):17838-17844(2006)Lerner-Ellis, J.P., et al. Hum. Mutat. 24(6):509-516(2004)
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