Recombinant Human PHD finger protein 6 (PHF6)

Uniprot Id

Q8IWS0

Target Species

Human

Target Name

PHF6

Target Full Name

PHD finger protein 6

Target Function

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

Target Involvement

Boerjeson-Forssman-Lehmann syndrome (BFLS)

Target Subcellular Location

Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore. Note=Nuclear, it particularly localizes to the nucleolus.

Target Tissue Specificity

Ubiquitously expressed.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

AC004383.6; BFLS; BORJ; CENP 31; Centromere protein 31; MGC14797; OTTHUMP00000024063; PHD finger protein 6; PHD like zinc finger protein; PHD-like zinc finger protein; Phf6; PHF6_HUMAN

Target Background

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.