Ask about this productRelated genes to: AMZ2 Blocking Peptide
- Gene:
- AMZ2 NIH gene
- Name:
- archaelysin family metallopeptidase 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 17q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2008-01-17
- Date modifiied:
- 2016-12-12
Related products to: AMZ2 Blocking Peptide
Related articles to: AMZ2 Blocking Peptide
- Male infertility manifests in the form of a reduction in sperm count, sperm motility, or the loss of fertilizing ability. While the loss of sperm production can have mixed reasons, sperm structural defects, cumulatively known as teratozoospermia, have predominantly genetic bases. The aim of the present review is to undertake a comprehensive analysis of the genetic mutations leading to sperm morphological deformities/teratozoospermia. - Source: PubMed
Publication date: 2024/10/17
Arora ManviMehta PoonamSethi ShrutiAnifandis GeorgeSamara MarySingh Rajender - Hepatocellular carcinoma (HCC) is the most common primary liver cancer worldwide. Cancer cells' local infiltration, proliferation, and spread are mainly influenced by the protein hydrolyzing function of different matrix metalloproteinases (MMPs). However, no study has determined the relationship between MMPs and prognostic prediction in HCC. - Source: PubMed
Publication date: 2024/05/16
Yuan XingxingYang LiuxinGao JiaweiMao XuZhang YaliYuan Wei - Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to date. While several monogenic factors are linked to cephalic abnormalities, such as globozoospermia and macrozoospermia, the genetic cause of vacuolated spermatozoa remains inadequately described. Here, we analyzed whole-exome sequencing (WES) data for an individual from a consanguineous family with severely vacuolated spermatozoa. The analysis revealed a novel homozygous c.520A>G (p.Thr174Ala) variant in the archaelysin family metallopeptidase 2 ( AMZ2 ), a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and sperm. Multiple algorithms predicted this variant to be a damaging mutation. Consistent with an autosomal recessive mode of inheritance, this variant was inherited from heterozygous parental carriers. To investigate the potential pathogenicity of the identified variant, we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy control. Immunoblot analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the spermatozoa. Our findings reveal a candidate causative gene for vacuolated spermatozoa. - Source: PubMed
Publication date: 2023/07/14
Liu LiuYang JingZhang Wen-JingZhou Yi-LingZhao Gui-JunHuang YaTang Shu-Yan - Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. - Source: PubMed
Reuter Miriam STawamie HasanBuchert RebeccaHosny Gebril OlaFroukh TawfiqThiel ChristianUebe SteffenEkici Arif BKrumbiegel MandyZweier ChristianeHoyer JulianeEberlein KarolinBauer JudithScheller UteStrom Tim MHoffjan SabineAbdelraouf Ehab RMeguid Nagwa AAbboud AhmadAl Khateeb Mohammed AymanFakher MahmoudHamdan SaberIsmael AminaMuhammad SafiaAbdallah EbtessamSticht HeinrichWieczorek DagmarReis AndréAbou Jamra Rami - Lung cancer is a leading cause of cancer mortality in Taiwan. It has been previously demonstrated that alterations to tumor suppressor genes (TSGs) are involved in the multi-step carcinogenesis process that results in the development of human cancer, including lung cancer. Both copies of the TSG must be inactivated for their function to be lost. As a result, it is important to search for the genomic regions that potentially contain TSGs and to investigate the etiological association of lung cancer with the allelic deletion of various candidate TSGs. Previous genome-wide loss of heterozygosity (LOH) data has demonstrated that the chromosome region at 17q24.3 was a novel and frequent LOH region that was associated with non-small-cell lung cancer (NSCLC). In the present study, refined mapping using 9 additional microsatellite markers was performed targeting chromosome 17q24.3 by polymerase chain reaction (PCR)-LOH analysis. The allelic loss pattern across 48 available tumors indicates that the minimal deletion region was located between markers D17S1882 and D17S2193 and spanned a distance of approximately 2.7 Mb, reaching 65% LOH at locus D17S1816. A putative gene, LOC51321 (), was postulated to be the deletion target on 17q24.3 based on the findings from these NSCLC samples. Reverse transcription-PCR (RT-PCR) expression analysis indicated reduced expression of LOC51321 in 54% (7/13) of the NSCLC cell lines tested and 36% (19/53) of the NSCLC tumor tissue samples analyzed. In CL1-5-F4 cells, low mRNA and protein expression of LOC51321 were associated with the promoter hypermethylation, as determined by RT-PCR, western blotting and methylation-specific PCR assays. In addition, treatment with 5-Aza-deoxycytosine successfully restored mRNA expression by de-methylating the putative promoter region in CL1-5-F4 cells that lacked LOC51321 expression, but did harbor the relevant methylated promoter. These findings indicate that LOC51321 may be involved in lung tumorigenesis. - Source: PubMed
Publication date: 2016/07/05
Huang WayrenWang YichingChu WoeichynTseng Ruochia