PES1
Description
The PES1 (pescadillo ribosomal biogenesis factor 1) is a protein-coding gene located on chromosome 22.
The PES1 gene in humans encodes the Pescadillo homolog protein. This protein is often found at elevated levels in malignant astrocytic tumors. PES1 is a highly conserved gene containing a BRCT domain that is essential for its function. It plays a critical role in cell proliferation and may be necessary for oncogenic transformation and tumor progression.
PES1 is a component of the PeBoW complex, which is essential for the maturation of 28S and 5.8S ribosomal RNAs and the formation of the 60S ribosome.
PES1 is also known as NOP7, PES.
Associated Diseases
- schizophrenia
- cancer
- bleeding disorder, platelet-type, 24
- platelet-type bleeding disorder 15
- transcobalamin II deficiency
- COVID-19
