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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- 4nn2.png
Show 8 more facts
- HomoloGene ID
- 12375
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/84295
- chromosome
- human X chromosome
- genomic end
- 133562820
- genomic start
- 134373288
- cytogenetic location
- Xq26.2
- genetic association
- Borjeson-Forssman-Lehmann syndrome
Sources (6)
via Wikidata · CC0