IKBKG antibody - middle region (ARP30005_T100)
- Known as:
- IKBKG (anti-) - middle region (ARP30005_T100)
- Catalog number:
- arp30005_t100
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- IKBKG antibody - middle region (ARP30005_T100)
Related genes to: IKBKG antibody - middle region (ARP30005_T100)
- Gene:
- IKBKG NIH gene
- Name:
- inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
- Previous symbol:
- IP2, IP1
- Synonyms:
- IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-30
- Date modifiied:
- 2019-04-23
- Gene:
- IKBKGP1 NIH gene
- Name:
- inhibitor of nuclear factor kappa B kinase subunit gamma pseudogene 1
- Previous symbol:
- IKBKGP
- Synonyms:
- deltaNEMO
- Chromosome:
- Xq28
- Locus Type:
- pseudogene
- Date approved:
- 2007-07-23
- Date modifiied:
- 2017-01-13
Related products to: IKBKG antibody - middle region (ARP30005_T100)
Related articles to: IKBKG antibody - middle region (ARP30005_T100)
- To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal testing and multidisciplinary care in the next-generation sequencing (NGS) era. - Source: PubMed
Publication date: 2026/03/06
Cao ChungeZhang YaoYang YingjunWei XingSun Luming - To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology. - Source: PubMed
Ma WenjieXie MinKang KaiGu MengnanYan LuluWu ShanshanLi HaiboXue Jiangyang - Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only known causative gene is IKBKG, and the most common genetic cause is the recurrent IKBKG deletion resulting from recombination between two MER67B repeats. Detection of variants in IKBKG is challenging due to the presence of a highly homologous non-pathogenic pseudogene IKBKGP1. In this study, we successfully identified four pathogenic variants in four IP patients using a strategy based on single-tube long fragment read (stLFR) sequencing with a specialized analysis pipeline. Three frameshift variants (c.519-3_519dupCAGG, c.1167dupC, and c.700dupT) were identified and subsequently validated by Sanger sequencing. Notably, c.519-3_519dupCAGG was found in both IKBKG and IKBKGP1, whereas the other two variants were only detected in the functional gene. The IKBKG deletion was identified and confirmed in one patient. These results demonstrate that the proposed strategy can identify potential pathogenic variants and distinguish whether they are derived from IKBKG or its pseudogene. Thus, this strategy can be an efficient genetic testing method for IKBKG. By providing a comprehensive understanding of the whole genome, it may also enable the exploration of other genes potentially associated with IP. Furthermore, the strategy may also provide insights into other diseases with detection challenges due to pseudogenes. - Source: PubMed
Publication date: 2024/05/29
Chen MinTan Mei-HuaLiu JiaoYang Yan-MeiYu Jia-LingHe Li-JuanHuang Ying-ZhiSun Yi-XiQian Ye-QingYan KaiDong Min-Yue - In addition to Sanger sequencing, next-generation sequencing of gene panels and exomes has emerged as a standard diagnostic tool in many laboratories. However, these captures can miss regions, have poor efficiency, or capture pseudogenes, which hamper proper diagnoses. One such example is the primary immunodeficiency-associated gene IKBKG. Its pseudogene IKBKGP1 makes traditional capture methods aspecific. We therefore developed a long-range PCR method to efficiently target IKBKG, as well as two associated genes (IRAK4 and MYD88), while bypassing the IKBKGP1 pseudogene. Sequencing accuracy was evaluated using both conventional short-read technology and a newer long-read, single-molecule sequencer. Different mapping and variant calling options were evaluated in their capability to bypass the pseudogene using both sequencing platforms. Based on these evaluations, we determined a robust diagnostic application for unambiguous sequencing and variant calling in IKBKG, IRAK4, and MYD88. This method allows rapid identification of selected primary immunodeficiency diseases in patients suffering from life-threatening invasive pyogenic bacterial infections. - Source: PubMed
Publication date: 2017/12/18
Frans GlynisMeert WimVan der Werff Ten Bosch JutteMeyts IsabelleBossuyt XavierVermeesch Joris RHestand Matthew S