Ask about this productRelated genes to: SNX27 antibody
- Gene:
- SNX27 NIH gene
- Name:
- sorting nexin 27
- Previous symbol:
- -
- Synonyms:
- MY014, KIAA0488, MGC20471
- Chromosome:
- 1q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-05
- Date modifiied:
- 2019-04-15
Related products to: SNX27 antibody
Related articles to: SNX27 antibody
- Many proteins can reach the cell surface through a Golgi-independent unconventional protein secretion (UPS) pathway, particularly under cellular stress conditions. However, the molecular mechanisms that mediate UPS remain largely elusive. In this study, VPS26A-containing retromer complex, along with the sorting nexin SNX27, is identified as a regulator of UPS of transmembrane proteins, including the trafficking-deficient ∆F508 mutant CFTR, which causes cystic fibrosis, and the SARS-CoV-2 spike protein, associated with COVID-19. A targeted CRISPR knockout screen identified VPS26A as a key contributor in the UPS of ∆F508-CFTR. Subsequent molecular analyses revealed that SNX27 recruits ∆F508-CFTR to the VPS26A-VPS35-VPS29 retromer complex, facilitating its transport to the cell surface under UPS-inducing conditions. Additionally, VPS26A and SNX27 are necessary for UPS of the spike protein, enabling the formation of intact SARS-CoV-2 virions. These findings suggest that the retromer complex and SNX27, known for their roles in recycling endosomes, mediate previously unrecognized functions in the UPS of transmembrane proteins. - Source: PubMed
Publication date: 2026/04/06
Kim Ye JinLee ChaeyoungSeo Soo KyungRoh Jae WonLee Hye RyungHwang Su JinChang NienpingChoi Hee SeongShin Dong HoonKim Hui KwonKim Han SangCho Hyun-SooLee Jae MyunGee Heon YungLee Min GooNoh Shin Hye - The evolutionarily conserved Retromer complex, composed of Vps29, Vps26 and Vps35, is an essential regulator of endosomal retrieval of transmembrane cargo proteins. For cargo sorting and trafficking to take place, Retromer assembles into coated tubulovesicular carriers together with various sorting nexin (SNX) adaptor proteins including SNX3 and SNX27 in metazoans, and Snx3 or the dimeric Vps5-Vps17 SNX-BAR proteins in yeast. Although Retromer-coated tubulovesicular carriers are vital for its function, the in vitro reconstitution of these membrane assemblies for structural and functional studies can be technically challenging. Approaches include the use of giant unilamellar vesicles and supported membrane tubules for fluorescence imaging, or smaller multilamellar vesicles (MLVs) to generate uniform tubules for imaging by cryoelectron tomography (CryoET). This chapter describes protocols for producing MLVs for membrane binding studies of Retromer and assembling the yeast Retromer-Vps5-Vps17 heteropentameric complex for reconstituting membrane tubulation for CryoET studies. We also discuss our observations of both poorly ordered and well-ordered Retromer coats observed in this experimental setup. - Source: PubMed
Publication date: 2026/01/23
Chen Kai-EnTillu Vikas AAriotti NicholasCollins Brett M - Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly understood, and further evidence is needed to confirm its association with disease and to better delineate the associated phenotype. Two unrelated Pakistani families with a total of five affected individuals segregating a neurodevelopmental disorder were investigated via exome or genome sequencing. This revealed a novel homozygous frameshift variant in family I [NM_001330723.2: c.75dup; p. (Ser26Valfs*85)], predicted to be targeted by nonsense-mediated decay. In family II, a novel homozygous missense variant [NM_001330723.2: c.929 T>C; p. (Met310Thr)] was found within the FERM-like region of the SNX27 protein, which is critical for retromer complex interaction. Comparison of five cases described in this study with previously reported six cases reinforces the presence of consistent "core" clinical features-global developmental delay, intellectual disability, speech delay, behavioral abnormalities, seizures, and motor dysfunction in all assessed cases. Other features such as dental anomalies, failure to thrive, and dysmorphisms occurred variably in few. Affected individuals with predicted loss-of-function variants typically presented with a more severe phenotype. Thus, core features of SNX27-related neurodevelopmental disorders (NDDs) are intellectual disability, developmental, and speech delays. This study, alongside prior reports, augments the genetic and phenotypic spectrum of SNX27-associated NDDs. The novel frameshift variant p.(Ser26Valfs*85) is predicted to severely disrupt SNX27 function, causing profound neurodevelopmental impairment, whereas the missense p.(Met310Thr) in the FERM-like region is associated with a milder phenotype. Comparative analyses with previous reports reveal a spectrum from early lethality to long-term survival with intellectual disability in SNX27-linked families. These findings underscore the importance of SNX27 in neurodevelopment and further validate its link to a neurodevelopmental disorder. - Source: PubMed
Publication date: 2026/01/29
Shan TayyabaHussain AbrarAcharya AnushreeHussain MulazimLi YumeiHussain Hafiz Muhammad JafarAfshan KiranLeal Suzanne MChen RuiMir AsifSchrauwen IsabelleFirasat Sabika - Bilirubin encephalopathy (BE) is a neurological disorder caused by the accumulation of unconjugated bilirubin (UCB) in the brain of newborns, resulting in various degrees of neuronal impairment. BE is characterized by cytotoxic edema and neuronal apoptosis. Aquaporin-4 (AQP4), a water channel abundantly expressed in the central nervous system, plays a critical role in maintaining water homeostasis. Dysregulation of AQP4 expression or trafficking is closely associated with brain edema, suggesting that modulation of AQP4 may offer a potential therapeutic approach for BE. Previous studies have indicated that melatonin (MT) possesses neuroprotective and therapeutic potential against BE; however, its precise mechanisms remain unclear. In this study, we optimized rat BE model to investigate the therapeutic effects of melatonin on AQP4 expression, trafficking, and apoptosis in parietal cortical neurons. Furthermore, we explored the molecular mechanisms underlying melatonin's neuroprotective actions, including the regulation mechanism of AQP4 expression, brain edema formation, and apoptosis induced by UCB accumulation. The results indicate that in the BE model, pathological injury of parietal cortex was significantly aggravated and AQP4's expression peaked at 24 h after BE modeling. MT activated PI3K/AKT signaling pathway in rat parietal cortex to downregulate AQP4 expression, apoptosis related proteins, and decreased SNX27's expression to promote the internalization of AQP4, reducing bilirubin induced cytotoxic edema and cortical apoptosis. This data suggest that MT has a neuroprotective role in BE, by potentially delaying its progression. - Source: PubMed
Publication date: 2025/12/03
Xue KaigeCheng XuefengQian WeijianMistry HemantFan PingHu JiahengChen ChunyanZhang LirongVazirinasab ParisaHuang JuanLu WeitianXu JinZhu ShujuanQiu GuopingRan JianhuaGan Shengwei - SNX27, member of the sorting nexin (SNX) family, carries a unique PDZ domain and mediates recycling of endocytosed transmembrane proteins. SNX27 is critical for neurodevelopmental processes; however, its role in intestine remains unexplored. We aim to determine the previously unknown roles of SNX27 in regulating intestinal homeostasis, epithelial barrier integrity, and inflammatory responses. - Source: PubMed
Publication date: 2025/11/17
Deb ShreyaZhang YongguoAn YueqingXia YinglinSun Jun