Source: | Rabbit | Gene Id: | 84295 |
Isotype: | IgG | Swiss Prot: | Q8IWS0 |
purity: | Affinity purification |
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. |
Reactivity | Human, Mouse |
Tested applications | WB IHC |
Clonality | Polyclonal Antibody |
Calculated MW | 41kDa |
Recommended Dilutions |
WB 1:500 - 1:2000
IHC 1:50 - 1:200
|
Immunogen | A recombinant protein of human PHF6 |
Storage | Store at -20oC (regular) or -80oC (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Synonym | BFLS, BORJ, CENP-31 |
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