PHF6
Domain
The PHD-type zinc finger 1 mediates both nucleolar localization and interaction with UBTF.
The ePHD2 domain folds as an integrated structural module comprizing the C2HC pre-PHD-type 2 zinc finger and the PHD-type 2 zinc finger. It mediates non-specific binding to dsDNA, but doesn't bind histones in contrast to many PHD-type zinc fingers.
Function
Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.
Involvement in disease
Boerjeson-Forssman-Lehmann syndrome
BFLS
An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Nucleus
- Nucleus
- Nucleolus
- Chromosome
- Centromere
- Kinetochore
- Nuclear, it particularly localizes to the nucleolus.
Alternative names
CENP-31, KIAA1823, PHF6, PHD finger protein 6, PHD-like zinc finger protein