rs1766939352

This variant is located in the MOCS1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

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About MOCS1

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 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, Nov 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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