PHF6

Also known as BFLS, BORJ, CENP-31, PHD finger protein 6

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

Gene data

PHF6

Name: PHD finger protein 6
Type: protein-coding
Chromosome: X
Aliases: BFLS, BORJ, CENP-31

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. [provided by RefSeq, Jun 2010].

via MyGene.info

Gene · Ensembl

PHD finger protein 6

Symbol: PHF6
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr X:134,373,284-134,428,792
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: 4nn2.png

Show 5 more facts

HomoloGene ID: 12375
exact match: identifiers.org/ncbigene/84295
genomic end: 133562820
genomic start: 134373288
cytogenetic location: Xq26.2

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

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus.