GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: MOCS2

id4338
symbolMOCS2
organismHomo sapiens
full namemolybdenum cofactor synthesis 2
summaryEukaryotic 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]
variant-disease

NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) AND Molybdenum cofactor deficiency, complementation group B

NM_004531.5(MOCS2):c.-169G>T AND Molybdenum cofactor deficiency, complementation group B

NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) AND not provided

NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) AND Molybdenum cofactor deficiency, complementation group B

NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) AND Molybdenum cofactor deficiency, complementation group B

... 94 more


Partner site online snapshot on site-shot.com.