LBP1 antibody Polyclonal Antibodies Primary antibodies
- Known as:
- LBP1 (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100173
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- LBP1 antibody Polyclonal Antibodies Primary antibodies
Related genes to: LBP1 antibody Polyclonal Antibodies Primary antibodies
- Gene:
- CLVS1 NIH gene
- Name:
- clavesin 1
- Previous symbol:
- RLBP1L1
- Synonyms:
- MGC34646, CRALBPL, C6orf212L
- Chromosome:
- 8q12.2-q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2007-07-18
- Date modifiied:
- 2018-02-13
- Gene:
- CLVS2 NIH gene
- Name:
- clavesin 2
- Previous symbol:
- C6orf212, C6orf213, RLBP1L2
- Synonyms:
- bA160A10.4
- Chromosome:
- 6q22.31
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2015-09-11
Related products to: LBP1 antibody Polyclonal Antibodies Primary antibodies
Related articles to: LBP1 antibody Polyclonal Antibodies Primary antibodies
- We performed next-generation sequencing in patients with familial steroid-sensitive nephrotic syndrome (SSNS) and identified a homozygous segregating variant (p.H310Y) in the gene encoding clavesin-1 (CLVS1) in a consanguineous family with 3 affected individuals. Knockdown of the clavesin gene in zebrafish (clvs2) produced edema phenotypes due to disruption of podocyte structure and loss of glomerular filtration barrier integrity that could be rescued by WT CLVS1 but not the p.H310Y variant. Analysis of cultured human podocytes with CRISPR/Cas9-mediated CLVS1 knockout or homozygous H310Y knockin revealed deficits in clathrin-mediated endocytosis and increased susceptibility to apoptosis that could be rescued with corticosteroid treatment, mimicking the steroid responsiveness observed in patients with SSNS. The p.H310Y variant also disrupted binding of clavesin-1 to α-tocopherol transfer protein, resulting in increased reactive oxygen species (ROS) accumulation in CLVS1-deficient podocytes. Treatment of CLVS1-knockout or homozygous H310Y-knockin podocytes with pharmacological ROS inhibitors restored viability to control levels. Taken together, these data identify CLVS1 as a candidate gene for SSNS, provide insight into therapeutic effects of corticosteroids on podocyte cellular dynamics, and add to the growing evidence of the importance of endocytosis and oxidative stress regulation to podocyte function. - Source: PubMed
Publication date: 2022/01/25
Lane Brandon MChryst-Stangl MeganWu GuanghongShalaby MohamedEl Desoky SherifMiddleton Claire CHuggins KinsieSood AmikaOchoa AlejandroMalone Andrew FVancini RicardoMiller Sara EHall GentzonKim So YoungHowell David NKari Jameela AGbadegesin Rasheed