C57BL/6JCya-Tbc1d22aem1/Cya
Common Name:
Tbc1d22a-KO
Product ID:
S-KO-19477
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Tbc1d22a-KO
Strain ID
KOCMP-223754-Tbc1d22a-B6J-VC
Gene Name
Product ID
S-KO-19477
Gene Alias
D15Ertd781e
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tbc1d22aem1/Cya mice (Catalog S-KO-19477) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000063414
NCBI RefSeq
NM_145476
Target Region
Exon 3
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Tbc1d22a, encoding a protein with GTPase-activating protein (GAP) activity for Rab family proteins, is involved in cellular signaling pathways related to GTPase-mediated signaling [3,4]. It has been associated with multiple biological and disease-related aspects.
In ovarian serous cystadenocarcinoma (OSC), Tbc1d22a expression is elevated, and high expression is related to poor overall survival (OS), progression-free survival (PFS), disease-specific survival (DSS), and disease-free survival (DFS). It is also positively correlated with M2 macrophage infiltration and the expression of most immune checkpoint genes, and increases the IC50 for cisplatin and paclitaxel in patients [1]. In cisplatin-resistant ovarian cancer, Tbc1d22a was identified as a poor prognostic gene [2].
In a Tunisian consanguineous family with recessive genetic epilepsy with febrile seizures plus (GEFS+), the Tbc1d22A gene was suggested as a new locus for the syndrome, as a microsatellite marker in its intronic region showed specific inheritance patterns [4]. In individuals with Phelan-McDermid syndrome presenting with seizures, a 3 Mb genomic region on 22q13.31 containing Tbc1d22a was significantly associated with seizure prevalence [5].
In conclusion, Tbc1d22a plays important roles in various disease conditions, especially in ovarian cancer prognosis and drug resistance, as well as in epilepsy-related syndromes and seizure prevalence in Phelan-McDermid syndrome. Studies on Tbc1d22a contribute to understanding the molecular mechanisms underlying these diseases, potentially providing new insights for disease diagnosis, prognosis prediction, and treatment strategies.
References:
1. Lv, Xiaofeng, Gong, Ruyue, Guo, Lili, Wang, Changyu. 2024. High Expression of TBC1 Domain Family Member 22A is Related to Poor Prognosis in Ovarian Serous Cystadenocarcinoma. In International journal of medical sciences, 21, 2603-2612. doi:10.7150/ijms.99744. https://pubmed.ncbi.nlm.nih.gov/39439452/
2. Liu, Dajiang, Li, Ruiyun, Wang, Yidan, Li, Dan, Li, Leilei. 2024. Identification and validation of genes associated with prognosis of cisplatin-resistant ovarian cancer. In BMC cancer, 24, 508. doi:10.1186/s12885-024-12264-z. https://pubmed.ncbi.nlm.nih.gov/39103807/
3. Liu, Shiqi, Hong, Yaqiang, Cui, Kai, Zhang, Dake, Hu, Dawei. 2018. Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing. In Twin research and human genetics : the official journal of the International Society for Twin Studies, 21, 361-368. doi:10.1017/thg.2018.41. https://pubmed.ncbi.nlm.nih.gov/30064533/
4. Belhedi, Nejla, Bena, Frédérique, Mrabet, Amel, Malafosse, Alain, Salzmann, Annick. 2013. A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family. In BMC genetics, 14, 93. doi:10.1186/1471-2156-14-93. https://pubmed.ncbi.nlm.nih.gov/24067191/
5. Jain, Lavanya, Oberman, Lindsay M, Beamer, Laura, Sarasua, Sara M, Boccuto, Luigi. 2021. Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures. In Clinical genetics, 101, 87-100. doi:10.1111/cge.14074. https://pubmed.ncbi.nlm.nih.gov/34664257/
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