Tetratricopeptide Repeat Domain 33 (TTC33) Human Recombinant Protein

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. [provided by RefSeq, Jul 2008]

MOCS2 iso2: Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group. Defects in MOCS2 are the cause of molybdenum cofactor deficiency type B (MOCOD type B). MOCOD type B is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death. Belongs to the MoaE family. MOCS2B subfamily.

Protein type: Enzyme, misc.; EC 2.8.1.12

Chromosomal Location of Human Ortholog: 5q11

Cellular Component: molybdopterin synthase complex; cytoplasm; nucleus; cytosol

Molecular Function: identical protein binding; nucleotide binding; Mo-molybdopterin synthase activity

Biological Process: vitamin metabolic process; Mo-molybdopterin cofactor biosynthetic process; molybdopterin cofactor biosynthetic process; water-soluble vitamin metabolic process

Disease: Molybdenum Cofactor Deficiency, Complementation Group A