EAX11537.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
33 kDa (MW of target protein)
NCBI Official Full Name
chromosome 2 open reading frame 25, isoform CRA_a
NCBI Official Synonym Full Names
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
NCBI Protein Information
methylmalonic aciduria and homocystinuria type D protein, mitochondrial
UniProt Protein Name
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
MMAD_HUMAN
NCBI Summary for C2orf25
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]
UniProt Comments for C2orf25
MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).
Chromosomal Location of Human Ortholog: 2q23.2
Cellular Component: mitochondrion; cytosol
Biological Process: vitamin metabolic process; cobalamin metabolic process; water-soluble vitamin metabolic process
Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type
Research Articles on C2orf25
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Products associated with anti-C2orf25 antibody
Pathways associated with anti-C2orf25 antibody
Diseases associated with anti-C2orf25 antibody
Organs/Tissues associated with anti-C2orf25 antibody
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