TERC

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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