DPY19L3
Description
The DPY19L3 (dpy-19 like C-mannosyltransferase 3) is a protein-coding gene located on chromosome 19.
DPY19L3 acts as a C-mannosyltransferase, attaching mannose units to tryptophan residues within specific protein sequences. This process takes place within the endoplasmic reticulum and involves the transfer of mannose from a dolichylphosphate mannose donor. DPY19L3 preferentially modifies RSPO1, a Wnt signaling regulator, at the first tryptophan within the WxxW sequence and also modifies the netrin receptor UNC5A at the third tryptophan within the WxxWxxWxxC sequence.
DPY19L3 is also known as -.
Associated Diseases
- primary familial polycythemia due to EPO receptor mutation
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha-thalassemia-myelodysplastic syndrome
