PHF6 Antibody (PACO11213)
- SKU:
- PACO11213
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | PHF6 Antibody (PACO11213) |
抗体コード: | PACO11213 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | |
反応性: | Human, Mouse |
免疫原: | Human PHF6 |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
精製方法: | Antigen Affinity Purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | PHD finger protein 6;PHF6;BORJ;MGC14797 ; |
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 |