Application | Comment | Organism |
---|---|---|
medicine | congenital sideroblastic anemia causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. Both basal and maximal respiration rates are decreased in patient cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L166S | and T154I, compound heterozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | Homo sapiens |
R190I | homozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | Homo sapiens |
T154I | and L166S, compound heterozygous mutation identified in a patient with sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q96Q11 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |