Product Datasheet
PHF6 Antibody
Catalog Number: 35894
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#: Q8IWS0
NCBI Gene ID: 84295
Gene Accssion: BC005994
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Fusion protein corresponding to residues near the C terminal of human PHD finger protein 6
- appl_detail:
- Western blotting: 1:200-1:1000
- other_names:
- BFLS; BORJ; CENP-31
- Purification:
- Antigen affinity purification.
- Specificity:
- The antibody detects endogenous levels of total PHF6 protein.
- 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.?
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