Home > A. Molecular pathology > TERC
TERC
MIM.602322 3q21-q28
Monday 20 June 2005
Telomerase has both a protein component and an RNA component. The RNA component acts as a template for the addition of telomeric repeat sequences.
Pathology
germline mutations in
- autosomal dominant dyskeratosis congenita (congenital dyskeratosis) (MIM.127550)
- nonsevere aplastic anemia (MIM.609135)
References
Marrone A, Walne A, Dokal I. Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev. 2005 Jun;15(3):249-57. PMID: 15917199