RNase MRP
Contents
Annotation
Name
RNase MRP
Alias
NA
Disease
Disease: cartilage hair hypoplaisia (PMID:24009312)
Dysfunction type: mutation
Description: Point mutations in RNase MRP cause human Cartilage Hair Hypoplaisia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. SHAPE chemical probing identified two alternative secondary structures altered by disease mutations.
Function
Function Mechanism: NA (PMID:24009312)
Biological Process: pathogenic process
Description: NA
