PHF20L1
Description
The PHF20L1 (PHD finger protein 20 like 1) is a protein-coding gene located on chromosome 8.
PHF20L1 is a negative regulator of proteasomal degradation of a set of methylated proteins, including DNMT1 and SOX2. It is involved in maintaining embryonic stem cell pluripotency by regulating SOX2 levels. This protein interacts with methylated DNMT1 (DNMT1K142me1) and SOX2.
PHF20L1 is also known as CGI-72, TDRD20B, URLC1.
Associated Diseases
- substance abuse
- breast cancer
- multinodular goiter
- hemoglobin D disease
- ghosal hematodiaphyseal dysplasia
- hemoglobin E disease
- retinitis pigmentosa and erythrocytic microcytosis
