Isoform 1
Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates.
Isoform 2
Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
SIFD
An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Retinitis pigmentosa and erythrocytic microcytosis
RPEM
An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.
Proteins
50128Da
We found 1 product in 1 category