Epigenetics & Nuclear Signaling Antibodies 5
Anti-PHF6 Antibody (CAB18149)
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- SKU:
- CAB18149
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Epigenetics and Nuclear Signaling
Description
| Antibody Name: | Anti-PHF6 Antibody |
| Antibody SKU: | CAB18149 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | Recombinant protein of human PHF6. |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | Rat thymus |
| Immunogen: | Recombinant protein of human PHF6. |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 84295 |
| Uniprot: | Q8IWS0 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | 41kDa |
 | Western blot - PHF6 Polyclonal Antibody (CAB18149) |
| Synonyms: | BFLS, BORJ, CENP-31, PHF6 |
| Background: |
| UniProt Protein Function: | PHF6: May play a role in transcriptional regulation. Defects in PHF6 are the cause of Boerjeson-Forssman- Lehmann syndrome (BFLS); also known as Boerjeson- Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Nucleolus; Unknown function Chromosomal Location of Human Ortholog: Xq26.2 Cellular Component: nucleolus; nucleoplasm; nucleus Molecular Function:enzyme binding; histone binding; histone deacetylase binding; phosphoprotein binding; protein binding; ribonucleoprotein binding; RNA binding; tubulin binding Disease: Borjeson-forssman-lehmann Syndrome |
| NCBI Summary: | 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] |
| UniProt Code: | Q8IWS0 |
| NCBI GenInfo Identifier: | 42559482 |
| NCBI Gene ID: | 84295 |
| NCBI Accession: | Q8IWS0.1 |
| UniProt Secondary Accession: | Q8IWS0,Q5JRC7, Q5JRC8, Q96JK3, Q9BRU0, A8K230, B4E0G4 D3DTG3, E9PC97, |
| UniProt Related Accession: | Q8IWS0 |
| Molecular Weight: | 37,628 Da |
| NCBI Full Name: | PHD finger protein 6 |
| NCBI Synonym Full Names: | PHD finger protein 6 |
| NCBI Official Symbol: | PHF6 |
| NCBI Official Synonym Symbols: | BFLS; BORJ; CENP-31 |
| NCBI Protein Information: | PHD finger protein 6 |
| UniProt Protein Name: | PHD finger protein 6 |
| UniProt Synonym Protein Names: | PHD-like zinc finger protein |
| Protein Family: | PHD finger protein |
| UniProt Gene Name: | PHF6 |
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