Background:This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms.
仕様
Synonyms:AC004383.6,BFLS,BORJ,CENP 31,Centromere protein 31,MGC14797,OTTHUMP00000024063,PHD finger protein 6,PHD like zinc finger protein,PHD-like zinc finger protein,Phf6,PHF6
Host:Rabbit
Reactivity:Human,Mouse
Applications:WB
Concentration:1mg/ml
Immunogen:Recombinant protein of human PHF6
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000
Gene_ID(human):84295
Swissprot:Q8IWS0
Isotype:IgG
Research Areas:Cancer, Epigenetics and Nuclear Signaling