CCA tRNA nucleotidyltransferase 1, mitochondrial
The TRNT1 gene encodes an enzyme that add a nucleotide triplet CCA to the tRNA. Mutations cause autosomal recessive diseases such as SIFD syndrome and Retinitis pigmentosa and erythrocytic microcytosis.
Nagaike T et al. (2001) Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases.
Lizano E et al. (2007) A splice variant of the human CCA-adding enzyme with modified activity.
Chakraborty PK et. al. (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
DeLuca AP et. al. (2016) Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Update: Aug. 14, 2020