Annotation Detail
Information
- Associated Genes
- MTNR1B
- Associated Variants
-
MTNR1B MUTATION
MTNR1B MUTATION - Associated Disease
- Juvenile hemochromatosis
- Source Database
- DisGeNET
- Description
- The matriptase (MT)-2 protein (encoded by the TMPRSS6 gene) regulates hepcidin expression by cleaving hemojuvelin [HJV/hemochromatosis type 2 (HFE2)], a bone morphogenetic protein (BMP) coreceptor in the hepcidin regulatory pathway.
- Pubmed
- 25588876
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs