Anti-PHD Finger Protein 6 / PHF6 Antibody (A283817)

Anti-PHD Finger Protein 6 / PHF6 Antibody

Rabbit polyclonal antibody to PHD Finger Protein 6 / PHF6.

This antibody recognises PHD finger protein 6, also known as CENP-31, BFLS, BORJ and KIAA1823. The gene encoding PHF6 is located on the x-chromosome, and mutations cause Borjeson-Forssman-Lehmann Syndrome, a rare disease characterized by features including intellectual disability, developmental delay, and epilepsy. PHF6 is a tumor suppressor, and a negative regulator of hemopoietic stem cell (HSC) self-renewal. Therefore, mutations that inactivate PHF6 gene function have also been implicated in hematological malignancies.

WB: 1:500 - 1:2,000

Human, Mouse

Recombinant protein of human PHF6.

Rabbit

Polyclonal

IgG

Lot Specific

Liquid

Supplied in Phosphate Buffered Saline with 50% Glycerol and 0.02% Sodium Azide.

Store undiluted at -20°C. Storage in frost free freezers is not recommended. Avoid freeze-thaw cycles. Should this product contain a precipitate we recommend microcentrifugation before use.

Rabbit anti PHF6 antibody recognizes PHD finger protein 6, also known as CENP-31, BFLS, BORJ and KIAA1823. The gene encoding PHF6 is located on the x-chromosome, and mutations cause Borjeson-Forssman-Lehmann Syndrome, a rare disease characterized by features including intellectual disability, developmental delay, and epilepsy (Mangelsdorf et al. 2009). PHF6 is a tumor suppressor, and a negative regulator of hemopoietic stem cell (HSC) self-renewal (McRae et al. 2019). Therefore, mutations that inactivate PHF6 gene function have also been implicated in hematological malignancies (Miyagi et al. 2019).