Gene Symbol | TRNT1 |
Entrez Gene ID | 51095 |
Full Name | tRNA nucleotidyl transferase 1 |
Synonyms | CCA1,CGI-47,MtCCA,RPEM,SIFD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3); Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3) |