Human PHD finger protein 6 ELISA Kit | PHF6 elisa kit
Human PHD finger protein 6, PHF6 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jun 2010]
Uniprot Description
PHF6: May play a role in transcriptional regulation. Defects in PHF6 are the cause of Boerjeson-Forssman- Lehmann syndrome (BFLS); also known as Boerjeson- Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Nucleolus; Unknown function
Chromosomal Location of Human Ortholog: Xq26.3
Cellular Component: nucleoplasm; nucleolus; nucleus
Molecular Function: tubulin binding; ribonucleoprotein binding; protein binding; enzyme binding; DNA binding; histone binding; zinc ion binding; histone deacetylase binding; phosphoprotein binding
Biological Process: transcription, DNA-dependent; regulation of transcription, DNA-dependent
Disease: Borjeson-forssman-lehmann Syndrome
Research Articles on PHF6
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Product Notes
The Human PHF6 phf6 (Catalog #AAA9338382) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9338382 ELISA Kit recognizes Human PHF6. It is sometimes possible for the material contained within the vial of "PHD finger protein 6, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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