MOCS1 Antibody – Rabbit Polyclonal

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Jan 2010]

MOCS1: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of a guanosine derivative to precursor Z during molybdenum cofactor biosynthesis. Defects in MOCS1 are the cause of molybdenum cofactor deficiency type A (MOCOD type A); 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. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 4.1.99.18; Enzyme, misc.

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: molybdopterin synthase complex; cytosol; nucleus

Molecular Function: GTP binding; 4 iron, 4 sulfur cluster binding; metal ion binding

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