功能： disease: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.,function:May play a role in transcriptional regulation.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 PHD-type zinc fingers.,subcellular location:Nuclear, it particularly localizes to the nucleolus.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore . Nuclear, it particularly localizes to the nucleolus.
组织表达： Ubiquitously expressed.
科研货号： PLA006897
PHF6 Polyclonal Antibody
Catalog NoPLA006897
Product information
基因名称： PHF6 KIAA1823
蛋白名称： PHD finger protein 6 (PHD-like zinc finger protein)
功能： disease: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.,function:May play a role in transcriptional regulation.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 PHD-type zinc fingers.,subcellular location:Nuclear, it particularly localizes to the nucleolus.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore . Nuclear, it particularly localizes to the nucleolus.
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