C1orf182
- Known as:
- C1orf182
- Catalog number:
- 002872A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf182
Related genes to: C1orf182
- Gene:
- TSACC NIH gene
- Name:
- TSSK6 activating cochaperone
- Previous symbol:
- C1orf182
- Synonyms:
- SSTK-IP, SIP
- Chromosome:
- 1q22
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-01
- Date modifiied:
- 2016-05-24
Related products to: C1orf182
Related articles to: C1orf182
- Non-obstructive azoospermia (NOA) is one of the most important causes of male infertility. It is mainly characterized by the absence of sperm in semen repeatedly or the number of sperm is small and not fully developed. At present, its pathogenesis remains largely unknown. The goal of this study is to identify hub genes that might affect biomarkers related to spermatogenesis. Using the clinically significant transcriptome and single-cell sequencing data sets on the Gene Expression Omnibus (GEO) database, we identified candidate hub genes related to spermatogenesis. Based on them, we performed Gene Ontology (GO) functional enrichment analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment pathway analyses, protein-protein interaction (PPI) network analysis, principal component analysis (PCA), cell cluster analysis, and pseudo-chronological analysis. We identified a total of 430 differentially expressed genes, of which three have not been reported related to spermatogenesis (C22orf23, TSACC, and TTC25), and the expression of these three hub genes was different in each type of sperm cells. The results of the pseudo-chronological analysis of the three hub genes indicated that TTC25 was in a low expression state during the whole process of sperm development, while the expression of C22orf23 had two fluctuations in the differentiating spermatogonia and late primary spermatocyte stages, and TSACC showed an upward trend from the spermatogonial stem cell stage to the spermatogenesis stage. Our research found that the three hub genes were different in the trajectory of sperm development, indicating that they might play important roles in different sperm cells. This result is of great significance for revealing the pathogenic mechanism of NOA and further research. - Source: PubMed
Publication date: 2021/02/26
He HaihongYu FanShen WangChen KeyanZhang LijunLou ShuangZhang QiaominChen SipingYuan XinhuaJia XingwangZhou Yiwen - We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western immunoblotting, and immunohistochemistry were performed with the aim of characterizing the disease-causing variants. In case No.1, we have identified a novel androgen receptor (AR) mutation (c.840delT) within the first exon in the N-terminal transactivation domain. This thymine deletion resulted in a frameshift and thus introduced a premature stop codon at amino acid 282. In case No.2, we observed a nonsynonymous mutation in the ligand-binding domain (c.2491C>T). Case No.3 did not reveal AR mutation; however, we have found a heterozygous mutation in gene, which has a role in steroid hormone biosynthesis. Comparative RNA-Seq analysis of CAIS and control revealed 4293 significantly deregulated genes. In patients with CAIS, we observed a significant increase in the expression levels of , , , , and and a significant decrease in the expression of and genes (more than 10-fold, < 0.05). Our findings will be helpful in molecular diagnostics of patients with CAIS, as well as the identified genes could be also potential biomarkers for the germ cells differentiation process. - Source: PubMed
Publication date: 2019/10/30
Malcher AgnieszkaJedrzejczak PiotrStokowy TomaszMonem SorooshNowicka-Bauer KarolinaZimna AgnieszkaCzyzyk AdamMaciejewska-Jeske MarzenaMeczekalski BlazejBednarek-Rajewska KatarzynaWozniak AldonaRozwadowska NataliaKurpisz Maciej