tRNA Nucleotidyltransferase, CAA-Adding, 1

Alternative Names

  • TRNT1
  • Mitochondrial CCA-Adding tRNA Nucleotidyltransferase
  • CCA-Adding tRNA Nucleotidyltransferase, Mitochondrial
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OMIM Number

612907

NCBI Gene ID

51095

Uniprot ID

Q96Q11

Length

26,496 bases

No. of Exons

11

No. of isoforms

3

Protein Name

CCA tRNA nucleotidyltransferase 1, mitochondrial

Molecular Mass

50128 Da

Amino Acid Count

434

Genomic Location

chr3:3,126,940-3,153,435

Gene Map Locus
3p26.2

Description

The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_182916.3:c.644A>GSaudi ArabiaNC_000003.12:g.3146465A>GLikely PathogenicSideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental DelayNG_041800.2:g.24550A>G; NM_182916.3:c.644A>G; NP_886552.3:p.His215Arg1280842844
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