AP1B1 Pre-design Chimera RNAi
- Known as:
- AP1B1 Pre-design Chimera RNAi
- Catalog number:
- H00000162-R01
- Product Quantity:
- 10 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- AP1B1 Pre-design Chimera RNAi
Related genes to: AP1B1 Pre-design Chimera RNAi
- Gene:
- AP1B1 NIH gene
- Name:
- adaptor related protein complex 1 subunit beta 1
- Previous symbol:
- ADTB1, CLAPB2
- Synonyms:
- BAM22, AP105A
- Chromosome:
- 22q12.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-01
- Date modifiied:
- 2018-04-23
Related products to: AP1B1 Pre-design Chimera RNAi
Related articles to: AP1B1 Pre-design Chimera RNAi
- The stimulator of interferon genes (STING) orchestrates type I interferon (IFN) production in response to cytosolic DNA and plays essential roles in antiviral defense and autoimmune pathogenesis. The stability of STING determines the activation intensity of the pathway. Therefore, identifying proteins that govern its homeostatic regulation is needed. Here, we uncover the lysosomal protease cathepsin L (CTSL) as a critical stabilizer of STING in cells. CTSL deficiency selectively impairs STING-induced IFN responses without compromising overall lysosomal digestive function. Mechanistically, CTSL interacts with AP1B1 to prevent AP1B1-mediated lysosomal degradation of STING, thereby enhancing IFN signaling. Furthermore, expression is elevated in cells from systemic lupus erythematosus (SLE) patients and positively correlates with disease activity. Together, our findings establish an important role of CTSL in innate immunity by regulating STING homeostasis. - Source: PubMed
Publication date: 2026/08/26
Xing Jia-QingZhang Zhi-HaoGuo Zeng-LinCai HongHan Qiu-YingPan JieFeng Min-YiXue WenZhao MingWang KaiXu XinLi TaoXia TianSun Li-Ming - The syndrome known as KIDAR (keratitis, ichthyosis, deafness, autosomal recessive) is extremely rare. It is caused by biallelic mutations in AP1B1, encoding adaptor-related protein complex, beta-1 subunit. AP1 complex takes part in the formation of vesicles and the selection of cargo proteins in the trans-golgi network. It also contributes to vesicular transport of ATP7A and ATP7B. Accordingly, KIDAR has been defined as both an adaptinopathy and a copper metabolism disorder. Eleven cases have been reported to date. We report two new KIDAR cases with novel splice site variants-c.1796+1 G > T and c.1796+1 G > C-in AP1B1 (NM_001127.4) gene. Functional analysis of the first variant revealed that this mutation disrupts the normal splicing process, resulting in the creation of a cryptic donor site 150 base pairs downstream of the canonical donor site which introduces a premature stop codon into the transcript. We also present a review of previously reported KIDAR cases and genetic disorders involving altering copper metabolism and highlight our patients' new clinical features, which may broaden the recognized phenotype. A detailed study of these cases may contribute to the ongoing genetic and clinical characterization of KIDAR syndrome. - Source: PubMed
Publication date: 2026/04/24
Altıner ŞuleGökpınar İli EzgiYurtdaş Ahmet KarerKurtçu OkanDoğulu NeslihanÖktem AyşeKöse EnginEminoğlu Fatma TubaYıldırım Behiye TuğçeAslanger Ayça DilrubaYeşil Sayın GözdeKarabulut Halil Gürhan - KIDAR syndrome (AP1B1-deficiency syndrome) is an ultra-rare autosomal recessive disorder characterized by ichthyosis, sensorineural deafness, and developmental delay, with fewer than 15 molecularly confirmed cases reported worldwide. We describe a 2.5-year-old Palestinian boy with a homozygous frameshift variant in AP1B1 (p.Leu166TrpfsTer38) who presented with the classic phenotype in addition to persistent vomiting and severe enteropathy, hyperparathyroidism, subclinical hypothyroidism, and progressive elevations in hepatic transaminases. His presentation overlaps with previously reported cases while further illustrating the persistence and complexity of gastrointestinal and endocrine involvement in KIDAR syndrome. This case underscores the importance of early genetic confirmation, coordinated multidisciplinary care, and continued case aggregation to refine the phenotype and guide management of this ultra-rare disorder. - Source: PubMed
Publication date: 2026/04/03
Issa KamalDawoud Ahmed Mansour YaqinKhader Zaid W RAlem AbdallahAbulail Mohammedzakaria S ZShakhshir AliDawoud Raghad Walid Jamil - The DNA methylation landscape in the lungs of argali hybrid sheep infected with () remains poorly characterized. This study aimed to profile genome-wide DNA methylation using reduced representation bisulfite sequencing (RRBS) and to validate key genes using bisulfite sequencing PCR (BSP), methylation-specific PCR (MSP), and quantitative MSP (QMSP). The results revealed a significant increase in global mCG methylation in -infected lungs. RRBS identified 3691 differentially methylated regions (DMRs), 66.2% of which were hypermethylated. Methylation levels were highest in gene bodies/downstream regions and lowest in promoters/5' untranslated regions. Differentially methylated genes (DMGs) were enriched in immune-inflammatory pathways (e.g., antigen presentation, B-cell receptor signaling, Th17 differentiation) and, to a lesser extent, neural signaling pathways. BSP confirmed the methylation status of hypermethylated , , , , and hypomethylated (, , ) DMGs. Independent validation by MSP and QMSP further supported the hypermethylation of and in both lung tissue and alveolar macrophages. Quantitative reverse-transcription PCR showed that promoter hypermethylation of , , , and was associated with transcriptional downregulation, while hypomethylation of correlated with upregulation. In summary, infection induces genome-wide hypermethylation reprogramming that dysregulates key immune-related genes, highlighting potential epigenetic mechanisms in the pathogenesis of mycoplasmal pneumonia. - Source: PubMed
Publication date: 2026/03/06
Zhang QinchuanLi ShiyiCheng GuojieZhao GuangxinZhou YudieSun YanmingZhang Yanbing - We report a female in her early childhood with autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analysis revealed a novel homozygous pathogenic variant in the gene. Initiation of acitretin therapy led to significant dermatologic improvement without adverse effects so far. This case underscores the rarity of autosomal recessive KID syndrome and highlights acitretin's potential as a therapeutic option. - Source: PubMed
Publication date: 2025/12/25
Caetano David GMartins FranciscoSoares JoãoRamos Leonor C