The tert gene encodes the telomerase reverse transcriptase enzyme which maintains telomere ends by addition of the telomeric repeat sequence TTAGGG. This protein functions as a catalytic subunit of the...[+]

The tert gene encodes the telomerase reverse transcriptase enzyme which maintains telomere ends by addition of the telomeric repeat sequence TTAGGG. This protein functions as a catalytic subunit of the telomerase complex and exhibits RNA-dependent DNA polymerase activity. It localizes to the nucleus. Expression is detected in the testis, ovary, brain, eye, heart, liver, lung, pancreas, and spleen during development and in adult tissues. [-]

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

          APLASTIC ANEMIA
          INTERSTITIAL LUNG DISEASE 2; ILD2
          DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
          MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9
          DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2
          PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1; PFB

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