TRNT1 tRNA nucleotidyl transferase 1

Gene ID: 51095, updated on 4-Jan-2025
Gene type: protein coding
Also known as: CCA1; RPEM; SIFD; MtCCA; CGI-47

Summary

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. [provided by RefSeq, Dec 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MedGen: C4015172OMIM: 616084GeneReviews: Not available	See labs
Retinitis pigmentosa and erythrocytic microcytosis MedGen: C4310776OMIM: 616959GeneReviews: Not available	See labs

Genomic context

Location:: 3p26.2

Sequence:: Chromosome: 3; NC_000003.12 (3126940..3153435)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TRNT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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