Species: Hu, Mu, Bv, Pm-Or
Applications: WB, IHC, IP, ChIP
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ICC/IF
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ELISA
Host: Mouse Monoclonal
Description
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.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
|
| Product By Gene ID |
84295 |
| Alternate Names |
- BFLS
- BORJ
- Borjeson-Forssman-Lehmann syndrome
- KIAA1823
- MGC14797
- PHD finger protein 6
- PHD-like zinc finger protein
|
