Symbol: Name: ID: |
PHF6 PHD finger protein 6 GFS:7032 |
Gene name: | PHF6 |
Chromosome: | Xq26 |
Previous Symbols: | BFLS, BORJ |
Previous Names: | Borjeson-Forssman-Lehmann syndrome |
Aliases: | KIAA1823, MGC14797 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1918248 | Rat Genome Database ID: | |
HGNC ID: | HGNC:18145 | RefSeq IDs: | NM_001015877 |
Entrez Gene ID: | 84295 | Ensembl Gene ID: | ENSG00000156531 |
VEGA IDs: | OTTHUMG00000022453 | UniProt ID: | Q8IWS0 |
UCSC ID: | uc004exk.2 | OMIM ID: | 300414 |
Pubmed: | PMID12415272 PMID 15466013 | ||
CCDS IDs: | CCDSCCDS14639.1 CCDS CCDS14640.1 |
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 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].
Function: May play a role in transcriptional regulation.
Products for PHF6 gene
Catalog | Product Name | Application | Company |
GFS:E07032 | PHD finger protein 6; ELISA kit | ELISA | n/a |
GFS:A07032 | PHD finger protein 6; Anti | ANTIBODIES | n/a |
GFS:P07032 | PHD finger protein 6; Protien | Protien | n/a |