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Methylmalonic aciduria

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] (from NCBI)
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Top mentioned proteins: CAN, ACID, Cbl, AGE, V1a
Papers on cblD
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Koutmos et al., Bethesda, United States. In J Biol Chem, Jan 2016
MMADHC (the methylmalonic aciduria and homocystinuria type D protein), commonly referred to as CblD, is a key chaperone involved in intracellular cobalamin trafficking, and mutations in CblD cause methylmalonic aciduria and/or homocystinuria.
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Yue et al., Zürich, Switzerland. In J Biol Chem, Jan 2016
The intracellular proteins MMACHC and MMADHC play important roles in processing and targeting the Cbl cofactor to its destination enzymes, and recent evidence suggests that they may interact while performing these essential trafficking functions.
Characterization of functional domains of the cblD (MMADHC) gene product.
Baumgartner et al., Zürich, Switzerland. In J Inherit Metab Dis, 2014
Previously we have shown that in cblD patients three types of MMADHC mutations exist: 1) null mutations N-terminal to Met116 cause isolated methylmalonic aciduria (cblD-MMA) due to AdoCbl deficiency; 2) null mutations across the C-terminus (p.Y140-R250) cause combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC) due to AdoCbl and MeCbl deficiency; 3) missense mutations in a conserved C-terminal region (p.D246-L259) cause isolated homocystinuria (cblD-HC) due to MeCbl deficiency.
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Banerjee et al., Ann Arbor, United States. In Biochimie, 2013
The gene corresponding to one of these loci, cblD, affects both the mitochondrial and cytoplasmic pathways for B12 processing.
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Coulton et al., Montréal, Canada. In Mol Genet Metab, 2013
MMACHC and MMADHC are the genes responsible for cblC and cblD defects of vitamin B(12) metabolism, respectively.
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.
Ugarte et al., Monza, Italy. In Jimd Rep, 2012
CblD disorder is an autosomal recessive, rare, heterogeneous disease with variable clinical presentations, depending on the nature and location of the MMADHC gene mutations.
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.
Attri et al., Chandīgarh, India. In Jimd Rep, 2012
This confirmed the diagnosis of cobalamin metabolism defect leading to combined methylmalonic aciduria and homocystinuria.
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
Coulton et al., Montréal, Canada. In Mol Genet Metab, 2012
The genes MMACHC and MMADHC encode critical proteins involved in the intracellular metabolism of cobalamin.
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Baumgartner et al., Switzerland. In Hum Mol Genet, 2012
MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
Inborn errors of cobalamin absorption and metabolism.
Rosenblatt et al., Canada. In Am J Med Genet C Semin Med Genet, 2011
These can give rise to isolated methylmalonic acidemia (cblA, cblB, cblD variant 2), isolated hyperhomocysteinemia (cblD variant 1, cblE, cblG) or combined methylmalonic acidemia and hyperhomocysteinemia (cblC, classic cblD, cblF).
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.
Coulton et al., Montréal, Canada. In Mol Genet Metab, 2011
MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).
Causes of and diagnostic approach to methylmalonic acidurias.
Baumgartner et al., Basel, Switzerland. In J Inherit Metab Dis, 2008
The cblA, cblB and the variant 2 form of cblD complementation groups are linked to processes unique to Ado-Cbl synthesis.
Gene identification for the cblD defect of vitamin B12 metabolism.
Fowler et al., Basel, Switzerland. In N Engl J Med, 2008
mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder
Disorders of Intracellular Cobalamin Metabolism
Venditti et al., Seattle, United States. In Unknown Journal, 2008
Diagnosis is confirmed by identification of biallelic mutation in one of the following genes (associated complementation groups indicated in parentheses): MMACHC (cblC), MMADHC (cblD and cblD variant 1), MTRR (cblE), LMBRD1 (cblF), MTR (cblG), and ABCD4 (cblJ).
Isolated Methylmalonic Acidemia
Venditti et al., Seattle, United States. In Unknown Journal, 2005
CLINICAL CHARACTERISTICS: Isolated methylmalonic acidemia/aciduria, the topic of this GeneReview, is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut(0) enzymatic subtype or mut(–) enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase.
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