| Field | Specification |
|---|---|
| Mfr No | |
| Clonality | |
| Host | |
| Immunogen | A portion of amino acids 315-349 from the human protein was used as the immunogen for the PHF6 antibody. |
| Isotype | |
| Product Type | |
| Purity | |
| Reactivity | |
| Storage | |
| Target | |
| UniProt # |
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes PHD finger protein 6, 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. [RefSeq]
- Format: Antigen affinity purified
- Predicted species reactivity: Bovine
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