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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Retinitis pigmentosa and erythrocytic microcytosis
TRNT1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
TRNT1

References:

1.

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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5.
Update: Aug. 14, 2020
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