PRDM14
Description
The PRDM14 (PR/SET domain 14) is a protein-coding gene located on chromosome 8.
PRDM14, a transcription factor, exhibits both activating and inhibiting effects on gene expression. It is essential for preserving the identity of embryonic stem cells and for re-establishing pluripotency in differentiated cells. PRDM14 plays a crucial role in germ cell development, contributing to the regaining of pluripotency (including upregulation of SOX2) and successful epigenetic reprogramming marked by EHMT1 repression. Its association with CBFA2T2 is required for its functions in pluripotency and germ cell formation. PRDM14 directly upregulates the expression of the pluripotency gene POU5F1 via its proximal enhancer. It binds to the DNA sequence 5'-GGTC[TC]CTAA-3'.
PRDM14 is also known as PFM11.
Associated Diseases
- schizophrenia
- cancer
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- congenital bilateral absence of vas deferens
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
