|Western Blot (WB)||1:500-1:3000|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Recombinant protein fragment corresponding to a region within amino acids 66 and 251 of Human PHF6|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS, pH 7, with 1% BSA, 20% glycerol|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
PA5-30853 targets PHF6 in IF and WB applications and shows reactivity with Human samples.
The PA5-30853 immunogen is recombinant protein fragment corresponding to a region within amino acids 66 and 251 of Human PHF6.
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 transcriptional splice variants, encoding different isoforms, have been characterized.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BFLS; BORJ; CENP-31; centromere protein 31; PHD finger protein 6; PHD-like zinc finger protein
Gene Aliases: BFLS; BORJ; CENP-31; KIAA1823; PHF6
UniProt ID: (Human) Q8IWS0
Entrez Gene ID: (Human) 84295
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