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Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. Additionally we are shipping Molybdenum Cofactor Synthesis 2 Antibodies (39) and Molybdenum Cofactor Synthesis 2 Proteins (22) and many more products for this protein.
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analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency
Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.
We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
Mocs2-deficient mice recapitulate the severe phenotype observed in humans and can now serve as a model for preclinical therapeutic approaches for MoCo deficiency type B.
Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.
molybdenum cofactor synthesis 2
, molybdopterin synthase
, molybdenum cofactor biosynthesis protein E
, molybdopterin synthase small and large subunit
, molybdopterin synthase sulfur carrier subunit
, molybdenum cofactor synthesis protein 2 large subunit
, molybdenum cofactor synthesis protein 2 small subunit
, molybdenum cofactor synthesis protein 2A
, molybdenum cofactor synthesis protein 2B
, sulfur carrier protein MOCS2A
, molybdopterin synthase catalytic subunit
, molybdopterin synthase small subunit MOCS2A
, Molybdenum cofactor synthesis protein 2 large subunit
, Molybdenum cofactor synthesis protein 2B
, putative molybdopterin synthase large subunit MOCS2B