PHD finger protein 6, Polyclonal Antibody

PHD-like zinc finger protein; CENP-31; KIAA1823; PHF6

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Caprylic Acid Ammonium Sulfate Precipitation Purified

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-PHD antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.

ELISA (EIA)

37,628 Da

PHD finger protein 6

PHD finger protein 6

PHD finger protein 6

CENP-31; KIAA1823  [Similar Products]

PHF6_HUMAN

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]

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: Unknown function; Nucleolus

Chromosomal Location of Human Ortholog: Xq26.3

Cellular Component: nucleolus; nucleoplasm; nucleus

Molecular Function: DNA binding; enzyme binding; histone binding; histone deacetylase binding; phosphoprotein binding; protein binding; ribonucleoprotein binding; tubulin binding; zinc ion binding

Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent

Disease: Borjeson-forssman-lehmann Syndrome

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