MRI1 methylthioribose-1-phosphate isomerase 1
Gene ID: 84245, updated on 6-Oct-2024Gene type: protein coding
Also known as: M1Pi; MRDI; MTNA; Ypr118w
- See all available tests in GTR for this gene
- Go to complete Gene record for MRI1
- Go to Variation Viewer for MRI1 variants
Summary
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]
Genomic context
- Location:
- 19p13.13
- Sequence:
- Chromosome: 19; NC_000019.10 (13764522..13774282)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MRI1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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