Tissue expression
Cell line expression
Protein structure
MMADHC
Metabolism of cobalamin associated DC2orf25, cblD, CL25022
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X. [provided by RefSeq, Nov 2008]
Top validated antibodies |
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antibodies-online | ![]() |
Monoclonal |
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Proteintech Group | ![]() |
Polyclonal |
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NovoPro Bioscience Inc. | ![]() |
Polyclonal |
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Cusabio Biotech Co., Ltd | ![]() |
Polyclonal |
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FineTest Biotech | ![]() |
Polyclonal |
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