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.
Genetests:
Related Diseases:
References:
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Nagaike T et al. (2001) Identification and characterization of mammalian mitochondrial tRNA nucleotidyltransferases.
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2. |
Lizano E et al. (2007) A splice variant of the human CCA-adding enzyme with modified activity.
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3. |
Chakraborty PK et. al. (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
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4. |
DeLuca AP et. al. (2016) Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
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Update: Aug. 14, 2020