ACTL6B
- Known as:
- ACTL6B
- Catalog number:
- 001091A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACTL6B
Related genes to: ACTL6B
- Gene:
- ACTL6B NIH gene
- Name:
- actin like 6B
- Previous symbol:
- ACTL6
- Synonyms:
- BAF53B
- Chromosome:
- 7q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-06-01
- Date modifiied:
- 2016-10-05
Related products to: ACTL6B
Related articles to: ACTL6B
- Mutations in the ACTL6B gene are implicated in a wide range of neurodevelopmental disorders, such as global developmental delay, drug-resistant epilepsy, aphasia, autistic traits, dystonia, and cerebral malformations. Recessive variants are typically associated with severe phenotypes, while dominant mutations lead to moderate-to-severe clinical presentations. Although neurological involvement is well characterized, gastrointestinal manifestations, particularly motility disorders, have not been previously associated with ACTL6B-related disease. Pediatric chronic intestinal pseudo-obstruction (PIPO) is a rare, severe gastrointestinal dysmotility disorder. Pyridostigmine, an acetylcholinesterase inhibitor with prokinetic effects, has recently been used off-label in selected PIPO cases. - Source: PubMed
Publication date: 2026/04/23
Rulli ImmacolataCarcione Angelo MattiaRomano ClaudioChimenz RobertoChirico ValeriaMarseglia LuciaRomeo CarmeloGitto Eloisa - Colorectal cancer (CRC) is the third most common malignancy worldwide, and bevacizumab is the backbone antibody against vascular endothelial growth factor (VEGF) for patients with liver metastases. Nevertheless, no clinically applicable biomarker reliably foretells who will benefit, because VEGF expression alone shows limited predictive value. This study aims to discover and functionally validate a molecular signature that can anticipate bevacizumab response and long-term outcome in CRC. - Source: PubMed
Publication date: 2025/12/26
Weng XiaZhu JiyunZhou Xiaoshuai - The Switch/Sucrose Nonfermentable (SWI/SNF) complexes are chromatin remodeling factors that consist of multiple protein subunits. Each subunit plays a distinct role in gene regulation and is aberrantly expressed in tumors, such as neuroendocrine neoplasms (NENs). BRG1-associated factor 53B (BAF53B), which is also known as ACTL6B, is a neuron-specific subunit that acts as a regulator during neurogenesis. Because the BAF53B expression pattern in tumors is unknown, the present study investigated the expression in cell lines and tissues. Publicly available transcriptome data indicated that BAF53B mRNA was highly expressed in NEN-derived cell lines. We performed immunohistochemical staining on tissue microarrays of different types of NENs with neuroendocrine (NE) marker expression (n = 117) (small cell lung carcinoma (SCLC)lung carcinoid (LC), gastroenteropancreatic-NEN (GEP-NEN), esophageal neuroendocrine carcinoma (ENEC), medullary thyroid carcinoma (MTC), neuroblastoma (NB), and pheochromocytoma (PHEO)) and non-NENs (n = 178). While few positive cells were observed in many cases of non-NENs (e.g., lung adenocarcinoma), positive expression was found in cases of NENs (SCLC (14/19, 73.7%), LC (12/16, 75.0%), GEP-NEN (4/9, 44.4%), ENEC (1/2, 50.0%), MTC (24/27, 88.9%), NB (18/20, 90.0%), and PHEO (16/24, 66.7%)). In NCI-H889 cells, BAF53B knockdown did not affect the cellular viability, and its effect on NE marker expression was only marginal. However, a gene expression microarray analysis suggested that BAF53B-regulated genes were associated with the development and progression of NENs. Our analysis revealed that BAF53B was an immunohistochemical marker for specific NENs, indicating its potentially important role in the pathogenesis. - Source: PubMed
Publication date: 2025/09/14
Sakurai KouheiOchiai MakoKojima KanataKato KentoAndo TatsuyaKato TakuIto Hiroyasu - Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin. - Source: PubMed
Publication date: 2025/01/09
Pickles Sarah RGonzalez Bejarano JesusNarayan AnandDaughrity LillianMaroto Cidfuentes CandelaReeves Madison MYue MeiCastellanos Otero PaulaEstades Ayuso VirginiaDunmore JudySong YupingTong JimeiDeTure MichaelRawlinson BaileyCastanedes-Casey MonicaDulski JaroslawCerquera-Cleves CatalinaZhang YongjieJosephs Keith ADickson Dennis WPetrucelli LeonardWszolek Zbigniew KPrudencio Mercedes - This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. - Source: PubMed
Publication date: 2024/09/17
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