C57BL/6JCya-Slc66a1em1flox/Cya
Common Name:
Slc66a1-flox
Product ID:
S-CKO-18071
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc66a1-flox
Strain ID
CKOCMP-212555-Slc66a1-B6J-VB
Gene Name
Product ID
S-CKO-18071
Gene Alias
Pqlc2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc66a1em1flox/Cya mice (Catalog S-CKO-18071) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000053862
NCBI RefSeq
NM_145384
Target Region
Exon 4~5
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Slc66a1, also known as PQLC2, is a lysosomal cationic amino acid transporter [4,5,6,7]. It plays a crucial role in maintaining amino acid homeostasis and is involved in the autophagy-lysosome pathway [1]. It can act as a sensor, responding to cationic amino acid scarcity by recruiting a protein complex composed of C9orf72, SMCR8, and WDR41 to lysosome surfaces, thereby controlling multiple aspects of lysosome function [4].
Genetic studies have associated Slc66a1 with several diseases. Homozygous pathogenic variants in Slc66a1 have been found to cause autosomal recessive retinitis pigmentosa (ARRP) [2]. Analysis of genome sequencing data from rare-disease parent-child trios also identified Slc66a1 as a likely novel cause for autosomal recessive rod-cone dystrophy [3]. In addition, PQLC2 is overexpressed in gastric cancer tissues, especially of the diffuse type, and its overexpression promotes cancer cell growth, suggesting it could be a potential therapeutic target in gastric cancer [6].
In conclusion, Slc66a1 is essential for lysosomal cationic amino acid transport and lysosome-related functions. Its role in autosomal recessive retinopathies and potential as a cancer therapeutic target, as revealed through genetic and disease-associated studies, highlight its significance in understanding disease mechanisms and developing treatments. [1,2,3,6]
References:
1. Beckers, Jimmy, Tharkeshwar, Arun Kumar, Van Damme, Philip. 2021. C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels. In Autophagy, 17, 3306-3322. doi:10.1080/15548627.2021.1872189. https://pubmed.ncbi.nlm.nih.gov/33632058/
2. Millo, Talya, Rivera, Antonio, Obolensky, Alexey, Banin, Eyal, Sharon, Dror. 2022. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. In Genetics in medicine : official journal of the American College of Medical Genetics, 24, 1523-1535. doi:10.1016/j.gim.2022.03.020. https://pubmed.ncbi.nlm.nih.gov/35486108/
3. Olinger, Eric, Wilson, Ian J, Orr, Sarah, Atan, Denize, Sayer, John A. 2024. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy. In Genetics in medicine open, 2, 101834. doi:10.1016/j.gimo.2024.101834. https://pubmed.ncbi.nlm.nih.gov/39669628/
4. Talaia, Gabriel, Amick, Joseph, Ferguson, Shawn M. . Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids. In Proceedings of the National Academy of Sciences of the United States of America, 118, . doi:10.1073/pnas.2014941118. https://pubmed.ncbi.nlm.nih.gov/33597295/
5. Amick, Joseph, Tharkeshwar, Arun Kumar, Talaia, Gabriel, Ferguson, Shawn M. . PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation. In The Journal of cell biology, 219, . doi:10.1083/jcb.201906076. https://pubmed.ncbi.nlm.nih.gov/31851326/
6. Jeung, Yun-Ji, Lee, Kyeong, Lee, Hyo Jin, Kim, Jin Man, Chung, Kyung-Sook. 2019. Cationic amino acid transporter PQLC2 is a potential therapeutic target in gastric cancer. In Cancer science, 110, 1453-1463. doi:10.1111/cas.13966. https://pubmed.ncbi.nlm.nih.gov/30729615/
7. Jézégou, Adrien, Llinares, Elisa, Anne, Christine, André, Bruno, Gasnier, Bruno. 2012. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. In Proceedings of the National Academy of Sciences of the United States of America, 109, E3434-43. doi:10.1073/pnas.1211198109. https://pubmed.ncbi.nlm.nih.gov/23169667/
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