Anti-PHF6 Antibody Picoband® Fluoro647 Conjugated

PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene. 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.

70 kDa ribosomal protein S6 kinase 1 antibody, KS6B1_HUMAN antibody, p70 alpha antibody, P70 beta 1 antibody, p70 ribosomal S6 kinase alpha antibody, p70 ribosomal S6 kinase beta 1 antibody, p70 S6 kinase alpha antibody, P70 S6 Kinase antibody, p70 S6 kinase alpha 1 antibody, p70 S6 kinase alpha 2 antibody, p70 S6K antibody, p70 S6K-alpha antibody, p70 S6KA antibody, p70 (S6K) alpha antibody, p70 (S6K) -alpha antibody, p70-alpha antibody, p70-S6K 1 antibody, p70-S6K antibody, P70S6K antibody, P70S6K1 antibody, p70S6Kb antibody, PS6K antibody, Ribosomal protein S6 kinase 70kDa polypeptide 1 antibody, Ribosomal protein S6 kinase beta 1 antibody, Ribosomal protein S6 kinase beta-1 antibody, Ribosomal protein S6 kinase I antibody, RPS6KB1 antibody, S6K antibody, S6K-beta-1 antibody, S6K1 antibody, Serine/threonine kinase 14 alpha antibody, Serine/threonine-protein kinase 14A antibody, STK14A antibody

Downstream effector of TOR signaling pathway involved in osmotic stress response. Could be involved in the control of plant growth and development. Phosphorylates the ribosomal proteins P14, P16 and S6. Functions as a repressor of cell proliferation and required for maintenance of chromosome stability and ploidy levels through the RBR1-E2F pathway.

1. Ahmed, R., Sarwar, S., Hu, J., Cardin, V., Qiu, L. R., Zapata, G., Vandeleur, L., Yan, K., Lerch, J. P., Corbett, M. A., Gecz, J., Picketts, D. J. Transgenic mice with an R342X mutation in Phf6 display clinical features of Borjeson-Forssman-Lehmann syndrome. Hum. Molec. Genet. 30: 575-594, 2021. 2. Borjeson, M., Forssman, H., Lehmann, O. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand. 171: 13-21, 1962. 3. Crawford, J., Lower, K. M., Hennekam, R. C. M., Van Esch, H., Megarbane, A., Lynch, S. A., Turner, G., Gecz, J. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J. Med. Genet. 43: 238-243, 2006.