PHF6 gene

PHD finger protein 6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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 mental retardation, 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. [provided by RefSeq, Jun 2010]

From UniProt:

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

From NCBI Gene:

  • Borjeson-Forssman-Lehmann syndrome

From UniProt:

Boerjeson-Forssman-Lehmann syndrome (BFLS): A 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. [MIM:301900]

Cytogenetic Location: Xq26.3, which is the long (q) arm of the X chromosome at position 26.3

Molecular Location: base pairs 134,373,312 to 134,428,792 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26.3, which is the long (q) arm of the X chromosome at position 26.3
  • BFLS
  • BORJ
  • CENP-31