PHF6

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 transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq]

Full Name

PHD finger protein 6

Function

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

Biological Process

Blastocyst hatchingIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

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

Involvement in disease

Boerjeson-Forssman-Lehmann syndrome (BFLS):
An 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.