Mitochondrial Amidoxime Reducing Component 1
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Mitochondrial amidoxime-reducing component 1 (also known as MOCO sulphurase C-terminal domain containing 1, MOSC1 or MARC1) is a mammalian molybdenum-containing
enzyme An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
. It is located in the outer mitochondrial membrane and consists of a N-terminal mitochondrial signal domain facing the inter-membrane space, a transmembrane domain, and a C-terminal catalytic domain facing the cytosol. In humans it is encoded by the ''MOSC1''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
. MOCO stands for molybdenum cofactor. MOSC1 has been reported to reduce amidoximes to
amidine Amidines are organic compounds with the functional group RC(NR)NR2, where the R groups can be the same or different. They are the imine derivatives of amides (RC(O)NR2). The simplest amidine is formamidine, HC(=NH)NH2. Examples of amidines includ ...
s. Genetic variation in MARC1 has been reported to be associated with lower blood cholesterol levels, blood liver enzyme levels, reduced liver fat and protection from cirrhosis suggesting that MARC1 deficiency may protect against liver disease. A
genome-wide association study In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different individuals to see if any variant is associated with a trait. GWA s ...
involving subjects from the
UK Biobank UK Biobank is a long-term prospective biobank study in the United Kingdom (UK) that houses the de-identified biological samples and health-related data of half a million people. The volunteer participants aged 40-69 were recruited between 2006 ...
further established as association of alcoholic-related liver disease.


See also

* MOCOS


References

Proteins {{gene-1-stub