Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats ...[+]

Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. [-]

             aplastic anemia
             dyskeratosis congenita
             acute myeloid leukemia
             autosomal dominant dyskeratosis congenita 1
             autosomal dominant dyskeratosis congenita 2
             autosomal recessive dyskeratosis congenita 4

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD