TERC
Contents
Annotation
Name
TERC
Alias
DKCA1,PFBMFT2,SCARNA19,TR,TRC3,hTR
Disease
Disease: dyskeratosis congenita (PMID:14630939)
Dysfunction type: mutation
Description: Mutations that alter the equilibrium between different conformational states of TERCs result in disease states such as dyskeratosis congenita, presumably through disruptions of the RNA scaffold structure into which are plugged modular binding sites for telomeric regulatory proteins.
Function
Function Mechanism: NA (PMID:24146262)
Biological Process: pathogenic process
Description: biomarker
