MRI1

Chr 19

methylthioribose-1-phosphate isomerase 1

Also known as: M1Pi, MRDI, MTNA, Ypr118w

NCBI Gene: 84245 ENSG00000037757 UniProt: Q9BV20

This enzyme catalyzes the interconversion of methylthioribose-1-phosphate and methylthioribulose-1-phosphate in the methionine salvage pathway and independently promotes cell invasion through FAK tyrosine phosphorylation. Mutations cause vanishing white matter disease, a progressive leukodystrophy affecting the central nervous system white matter. The gene shows tolerance to loss-of-function variants (pLI 0.0004, LOEUF 1.10), and inheritance pattern requires further clinical correlation.

ResearchSummary from RefSeq, UniProt

This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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