C57BL/6JCya-Pi4kaem1/Cya
Common Name:
Pi4ka-KO
Product ID:
S-KO-18161
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pi4ka-KO
Strain ID
KOCMP-224020-Pi4ka-B6J-VA
Gene Name
Product ID
S-KO-18161
Gene Alias
PI4K-alpha; Pik4ca
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
16
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pi4kaem1/Cya mice (Catalog S-KO-18161) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000036161
NCBI RefSeq
NM_001001983
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Pi4ka, also known as Phosphatidylinositol 4-kinase IIIα, is a lipid kinase that generates phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid crucial for multiple cell types' physiology [1]. PI4ka's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7, and FAM126 [1]. It functions at the plasma membrane, regulating lipid transport and PLC and PI3K signalling pathways [3].
Biallelic Pi4ka sequence alterations in humans are associated with a variety of disorders. These include neurological diseases such as hypomyelinating leukodystrophy, inflammatory bowel disease, multiple intestinal atresia, and combined immunodeficiency [1]. In B-cells, biallelic Pi4ka mutations disrupt metabolism, leading to mitochondrial dysfunction, B-cell lymphopenia, and hypogammaglobulinemia [2]. High expression of Pi4ka is observed in drug-resistant leukemia cells, and its depletion sensitizes these cells to chemotherapeutic drugs [4].
In conclusion, Pi4ka is essential for generating PI4P and regulating key cellular processes. Research on Pi4ka, especially through studying its mutations in human diseases, has revealed its significant role in neurological, intestinal, immunological conditions, and leukemia. Understanding Pi4ka provides insights into the underlying mechanisms of these diseases and potential therapeutic strategies.
References:
1. Salter, Claire G, Cai, Yiying, Lo, Bernice, Wolf, Nicole I, Baple, Emma L. . Biallelic PI4KA variants cause neurological, intestinal and immunological disease. In Brain : a journal of neurology, 144, 3597-3610. doi:10.1093/brain/awab313. https://pubmed.ncbi.nlm.nih.gov/34415310/
2. Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Barberis, Matteo, Biondi, Andrea. 2024. Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia. In Journal of clinical immunology, 45, 15. doi:10.1007/s10875-024-01793-8. https://pubmed.ncbi.nlm.nih.gov/39312004/
3. Suresh, Sushant, Burke, John E. 2023. Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease. In Advances in biological regulation, 90, 100996. doi:10.1016/j.jbior.2023.100996. https://pubmed.ncbi.nlm.nih.gov/37979461/
4. Jiang, Xiuxing, Huang, Xiangtao, Zheng, Guoxun, Xu, Shuangnian, Gao, Ning. 2022. Targeting PI4KA sensitizes refractory leukemia to chemotherapy by modulating the ERK/AMPK/OXPHOS axis. In Theranostics, 12, 6972-6988. doi:10.7150/thno.76563. https://pubmed.ncbi.nlm.nih.gov/36276647/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen