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タンパク質カタログ
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- サプライヤー
- TargteMol
- カタログNo.
- TMPK-00928
- 製品名称
- VLDLR Protein, Mouse, Recombinant (His)
- タンパク質名
- VLDLR
- Species
- Mouse
- HOST
- HEK293 Cells
- 100μg: -
- お問い合わせ
Overview
| Synonyms | VLDL-R, CHRMQ1, VLDLR, FLJ35024, VLDLRCH, RP11-320E16.1 |
|---|---|
| Characteristics | Mouse VLDLR, His Tag immobilized on CM5 Chip can bind Mouse PCSK9, His Tag with an affinity constant of 0.28 nM as determined in SPR assay. |
| Endotoxin Level | < 1 EU/μg by the LAL method. |
| Purity | > 95% |
| Description | VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known. |
| Reference | Boycott KM, et al. VLDLR Cerebellar Hypoplasia. 2008 Aug 26 [updated 2020 Feb 27]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle; 1993?202PMID: 20301729. |
| URL | https://www.targetmol.com/recombinant-protein/vldlr_protein_mouse_recombinant_his_ |
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