APOL5 Antibody
- Known as:
- APOL5 Antibody
- Catalog number:
- AF1086a
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- APOL5 Antibody
Related genes to: APOL5 Antibody
- Gene:
- APOL5 NIH gene
- Name:
- apolipoprotein L5
- Previous symbol:
- -
- Synonyms:
- APOLV
- Chromosome:
- 22q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-03-21
- Date modifiied:
- 2015-12-15
Related products to: APOL5 Antibody
Related articles to: APOL5 Antibody
- We report a 15-year-old female with hypoplastic left heart syndrome and a strong family history of congenital heart defects. Quad genome sequencing was performed following negative chromosomal microarray and congenital structural heart disease gene panel testing, revealing a heterozygous 144 kb deletion encompassing exons 4-14 of RBFOX2, the entirety of the APOL5 gene, and exon 3 of APOL6 in all affected family members. Although RBFOX2 has been implicated in causing hypoplastic left heart syndrome in animal models, and variants in this gene are enriched in patients with congenital heart disease, this report establishes loss-of-function variants in RBFOX2 as an autosomal dominant cause of hypoplastic left heart syndrome. Furthermore, this case highlights the power of genome sequencing in identifying causative variants in patients who have received nondiagnostic array and panel testing. - Source: PubMed
Publication date: 2025/10/29
Jean FrancescaStuart AmandaMarcadier JulienBernier Francois PLamont Ryan E - Some patients diagnosed with benign IgA nephropathy (IgAN) develop a progressive clinical course, not predictable by known clinical or histopathological parameters. To assess if gene expression can differentiate between progressors and non-progressors with assumed benign IgAN, we tested microdissected glomeruli from archival kidney biopsy sections from adult patients with stable clinical remission (21 non-progressors) or from 15 patients that had undergone clinical progression within a 25-year time frame. Based on 1 240 differentially expressed genes from patients with suitable sequencing results, we identified eight IgAN progressor and nine non-progressor genes using a two-component classifier. These genes, including APOL5 and ZXDC, predicted disease progression with 88% accuracy, 75% sensitivity and 100% specificity on average 21.6 years before progressive disease was clinically documented. APOL lipoproteins are associated with inflammation, autophagy and kidney disease while ZXDC is a zinc-finger transcription factor modulating adaptive immunity. Ten genes from our transcriptomics data overlapped with an external genome wide association study dataset, although the gene set enrichment test was not statistically significant. We also identified 45 drug targets in the DrugBank database, including angiotensinogen, a target of sparsentan (dual antagonist of the endothelin type A receptor and the angiotensin II type 1 receptor) currently investigated for IgAN treatment. Two validation cohorts were used for substantiating key results, one by immunohistochemistry and the other by nCounter technology. Thus, glomerular mRNA sequencing from diagnostic kidney biopsies from patients with assumed benign IgAN can differentiate between future progressors and non-progressors at the time of diagnosis. - Source: PubMed
Publication date: 2023/12/26
Rivedal MariellMikkelsen HåvardMarti Hans-PeterLiu LiliKiryluk KrzysztofKnoop ThomasBjørneklett RuneHaaskjold Yngvar LundeFurriol JessicaLeh SabinePaunas FlaviaBábíčková JankaScherer AndreasSerre CamilleEikrem OysteinStrauss Philipp - The human apolipoprotein L gene family encodes the apolipoprotein L1-6 (APOL1-6) proteins, which are effectors of the innate immune response to viruses, bacteria and protozoan parasites. Due to a high degree of similarity between APOL proteins, it is often assumed that they have similar functions to APOL1, which forms cation channels in planar lipid bilayers and membranes resulting in cytolytic activity. However, the channel properties of the remaining APOL proteins have not been reported. Here, we used transient overexpression and a planar lipid bilayer system to study the function of APOL proteins. By measuring lactate dehydrogenase release, we found that APOL1, APOL3, and APOL6 were cytolytic, whereas APOL2, APOL4, and APOL5 were not. Cells expressing APOL1 or APOL3, but not APOL6, developed a distinctive swollen morphology. In planar lipid bilayers, recombinant APOL1 and APOL2 required an acidic environment for the insertion of each protein into the membrane bilayer to form an ion conductance channel. In contrast, recombinant APOL3, APOL4, and APOL5 readily inserted into bilayers to form ion conductance at neutral pH, but required a positive voltage on the side of insertion. Despite these differences in membrane insertion properties, the ion conductances formed by APOL1-4 were similarly pH-dependent and cation-selective, consistent with conservation of the pore-lining region in each protein. Thus, despite structural conservation, the APOL proteins are functionally different. We propose that these proteins interact with different membranes and under different voltage and pH conditions within a cell to effect innate immunity to different microbial pathogens. - Source: PubMed
Publication date: 2021/07/10
Pant JyotiGiovinazzo Joseph ATuka Lilit SPeña DarwinRaper JayneThomson Russell - In a previous linkage study of schizophrenia that included Taiwanese samples, the marker D22S278 (22q12.3) was significantly linked to schizophrenia (p = .001). - Source: PubMed
Publication date: 2008/06/20
Liu Yu-LiFann Cathy Shen-JangLiu Chih-MinChen Wei JWu Jer-YuarnHung Shuen-IuChen Chun-HouhJou Yuh-ShanLiu Shi-KaiHwang Tzung-JengHsieh Ming HChang Chien ChingYang Wei-ChihLin Jin-JiaChou Frank Huang-ChihFaraone Stephen VTsuang Ming THwu Hai-Gwo