Description
| 抗体名: | KLHL3 Antibody |
| 抗体コード: | PACO03827 |
| サイズ: | 50ug |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB, IHC, IF |
| 推奨される希釈: | WB:1:500-1:2000, IHC:1:100-1:300, IF:1:200-1:1000 |
| 反応性: | Human |
| 免疫原: | synthesized peptide derived from the N-terminal region of human KLHL3. |
| 憲法: | Liquid |
| ストレージバッファ: | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| 精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
| シノニム: | KLHL3; KIAA1129; Kelch-like protein 3 |
| UniProt Protein Function: | KLHL3: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex may act by mediating ubiquitination of SLC12A3/NCC, thereby regulating SLC12A3/NCC subcellular location at the cell membrane. Defects in KLHL3 are the cause of Pseudohypoaldosteronism type 2D (PHA2D). A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Cytoskeletal; Actin-binding Chromosomal Location of Human Ortholog: 5q31 Cellular Component: cytosol Molecular Function:protein binding; structural molecule activity; ubiquitin-protein ligase activity Biological Process: ion homeostasis; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process Disease: Pseudohypoaldosteronism, Type Iid |
| NCBI Summary: | This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] |
| UniProt Code: | Q9UH77 |
| NCBI GenInfo Identifier: | 13431657 |
| NCBI Gene ID: | 26249 |
| NCBI Accession: | Q9UH77.2 |
| UniProt Secondary Accession: | Q9UH77,Q9UH75, Q9UH76, Q9ULU0, Q9Y6V6, B2RBK7, |
| UniProt Related Accession: | Q9UH77 |
| Molecular Weight: | 55,927 Da |
| NCBI Full Name: | Kelch-like protein 3 |
| NCBI Synonym Full Names: | kelch like family member 3 |
| NCBI Official Symbol: | KLHL3 |
| NCBI Official Synonym Symbols: | PHA2D |
| NCBI Protein Information: | kelch-like protein 3 |
| UniProt Protein Name: | Kelch-like protein 3 |
| Protein Family: | Kelch-like protein |
| UniProt Gene Name: | KLHL3 |
| UniProt Entry Name: | KLHL3_HUMAN |
