MOCS1
Encyclopedia
Molybdenum cofactor biosynthesis protein 1 is a protein
that in humans is encoded by the MOCS1 gene
.
Both copies of this gene are defective in patients with molybdenum cofactor deficiency
, type A.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the MOCS1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Both copies of this gene are defective in patients with molybdenum cofactor deficiency
Molybdenum cofactor deficiency
Molybdenum cofactor deficiency is a human disease. Absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage usually leading to death within months of birth, due to the lack of active sulfite oxidase...
, type A.