疾病相关Defects in PHF6 are the cause of Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]; also known as Boerjeson-Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
序列相似性Contains 2 PHD-type zinc fingers.
翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
细胞定位Nucleus. Nucleus > nucleolus. Nuclear, it particularly localizes to the nucleolus.