GTX33408
PHF6 antibody
Cannot supply to this region.
- SKU:
- GTX33408
- Additional Names:
- PHD finger protein 6 , BFLS , BORJ , CENP-31
- Application:
- WB
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Rabbit
- Reactivities:
- Human
- Buffer:
- PBS, 50% Glycerol, 0.02% Sodium azide.
- Immunogen:
- Recombinant fusion protein containing a sequence corresponding to amino acids 1-312 of human PHF6 (NP_115711.2).
- Uniprot:
- Q8IWS0
- Synonyms:
- BFLS;BORJ;CENP-31;centromere protein 31;PHD finger protein 6;PHD-like zinc finger protein;truncated PHF6
- Extra Details:
- 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 cognitive disability, 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. [provided by RefSeq, Jun 2010]
- Shipping Conditions:
- Blue Ice