RecName: Full=Cobalamin trafficking protein CblD; AltName: Full=CblD; - Protein

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Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases. [Neurologia (Engl Ed). 2019]
Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.
Cancho García E, Geán E, Oliver Tormo B, Torrents A, Esteban Durán E. Neurologia (Engl Ed). 2019 Jul-Aug; 34(6):419-421. Epub 2017 Sep 20.
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. [J Biol Chem. 2015]
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Yamada K, Gherasim C, Banerjee R, Koutmos M. J Biol Chem. 2015 Dec 4; 290(49):29155-66. Epub 2015 Sep 13.
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. [J Biol Chem. 2004]
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, et al. J Biol Chem. 2004 Oct 8; 279(41):42742-9. Epub 2004 Aug 2.

RefSeq genomic sequence
See the genomic reference sequence for the MMADHC gene (NG_009189.1).
RefSeq protein
See the reference protein sequence for cobalamin trafficking protein CblD (NP_056517.1).

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Q9H3L0 [Domain Mapping of Disease Mut...]
Q9H3L0
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RecName: Full=Cobalamin trafficking protein CblD; AltName: Full=CblD; AltName: F...
RecName: Full=Cobalamin trafficking protein CblD; AltName: Full=CblD; AltName: Full=Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Flags: Precursor
gi|68565296|sp|Q9H3L0.2|MMAD_HUMAN

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