PRDM15
Description
The PRDM15 (PR/SET domain 15) is a protein-coding gene located on chromosome 21.
PRDM15, encoded by the PRDM15 gene, plays a critical role in maintaining naive pluripotency by regulating the Wnt and MAPK-ERK signaling pathways. It directly promotes the expression of Rspo1 and Spry1 by binding to their promoter regions and inducing chromatin changes. Mutations in PRDM15 have been linked to holoprosencephaly and microcephaly, highlighting its importance in brain development. Research using mouse models and embryonic stem cells has revealed the complex interplay between Notch, Wnt/PCP signaling, and early embryo patterning, suggesting that PRDM15 plays a crucial role in coordinating these pathways during development.
PRDM15 is also known as C21orf83, PFM15, ZNF298.
Associated Diseases
- steroid-resistant nephrotic syndrome
- cancer
- holoprosencephaly
- Bloom syndrome
- hematopoietic and lymphoid system neoplasm
- Galloway-Mowat syndrome
