C57BL/6JCya-Slc66a1em1/Cya
Common Name:
Slc66a1-KO
Product ID:
S-KO-18017
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc66a1-KO
Strain ID
KOCMP-212555-Slc66a1-B6J-VB
Gene Name
Product ID
S-KO-18017
Gene Alias
Pqlc2
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc66a1em1/Cya mice (Catalog S-KO-18017) 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. It plays a crucial role in maintaining amino acid homeostasis within cells, transporting lysine, arginine, and histidine across the lysosomal membrane. PQLC2 is involved in the lysosomal sensing of cationic amino acids and recruits a protein complex composed of C9orf72, SMCR8, and WDR41 to the lysosomal surface in response to amino acid scarcity, which is important for regulating multiple aspects of lysosome function [2,3].
Mutations in SLC66A1 have been associated with autosomal recessive retinitis pigmentosa (ARRP), suggesting its significance in retinal function [1]. In four families, SLC66A1 was proposed as a likely novel cause for autosomal recessive rod-cone dystrophy through copy-number analysis of genome sequencing data in rare-disease parent-child trios [4].
In conclusion, Slc66a1, or PQLC2, is essential for lysosomal cationic amino acid transport and sensing, with implications for lysosome function. The identification of its association with autosomal recessive retinal diseases through genetic analyses in human families highlights its importance in understanding the pathogenesis of these disorders.
References:
1. 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/
2. 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/
3. 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/
4. 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/
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