関連疾患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.
配列類似性Contains 2 PHD-type zinc fingers.
翻訳後修飾Phosphorylated upon DNA damage, probably by ATM or ATR.
細胞内局在Nucleus. Nucleus > nucleolus. Nuclear, it particularly localizes to the nucleolus.