TMEM184B Antibody (OAPB01078)
- Known as:
- TMEM184B Antibody (OAPB01078)
- Catalog number:
- oapb01078
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TMEM184B Antibody (OAPB01078)
Related genes to: TMEM184B Antibody (OAPB01078)
- Gene:
- TMEM184B NIH gene
- Name:
- transmembrane protein 184B
- Previous symbol:
- C22orf5
- Synonyms:
- HS5O6A, DKFZP586A1024, FM08
- Chromosome:
- 22q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-03-29
- Date modifiied:
- 2016-10-05
Related products to: TMEM184B Antibody (OAPB01078)
Related articles to: TMEM184B Antibody (OAPB01078)
- Intrahepatic cholangiocarcinoma (ICC) is an aggressive malignancy with poor prognosis and limited treatment options. Disulfidptosis, a novel cell death pathway driven by disulfide bond accumulation, has emerged as a potential mechanism in cancer biology; however, its role in ICC remains unclear. - Source: PubMed
Publication date: 2026/07/29
Qiao WanjiaHe YixiangLi JingLiu XiaohanZhang LingfangBai XinWang YeyingTang Jianming - Gliomas are among the most aggressive brain tumors, with high mortality and limited treatments. Despite genetic advances, their molecular mechanisms remain unclear, hindering diagnostic biomarkers and targeted therapies. This study investigates novel glioma susceptibility genes using integrative multi-omics. - Source: PubMed
Publication date: 2025/11/05
Jiang RuiqiTu ShaohuaJi NanLiu GangYu KefuZhao Zhigang - Cutaneous malignant melanoma (CMM) is a deadly skin cancer with genetic basis. Although genome-wide association studies (GWAS) have identified various risk loci, their functional consequences remain largely undefined. This study aims to uncover novel CMM-associated genes and investigate their potential biological mechanisms by integrating large-scale genetic and transcriptomic datasets. - Source: PubMed
Publication date: 2025/11/20
Zhou PingJiang XinWang WanchunWang Dan - Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We report six pediatric cases who have de novo heterozygous variants in TMEM184B; five individuals harbor a rare missense variant, and one individual has an mRNA splice site change. This cohort is unified by overlapping neurodevelopmental deficits including developmental delay, corpus callosum hypoplasia, seizures, and/or microcephaly. TMEM184B is predicted to contain a pore domain wherein four of five human disease-associated missense variants cluster. Structural modeling suggests that all missense variants alter TMEM184B protein stability. To understand the contribution of TMEM184B to neural development in vivo, we knocked down the TMEM184B ortholog in zebrafish and observed microcephaly and reduced anterior commissural axons, aligning with symptoms of affected individuals. Ectopic expression of TMEM184B c.550A>G (p.Lys184Glu) and c.484G>A (p.Gly162Arg) variants cause reduced head size and body length, indicating dominant effects, while three other variants show haploinsufficiency. None of the variants are able to rescue the knockdown phenotype. Human induced pluripotent stem cells with monoallelic production of p.Lys184Glu show mRNA disruptions in key metabolic pathways including those controlling mechanistic target of rapamycin activity. Expression of p.Lys184Glu and c.863G>C (p.Gly288Ala) increased apoptosis in cell lines, and p.Lys184Glu increased nuclear localization of transcription factor EB, consistent with a cellular starvation state. Together, our data indicate that TMEM184B variants cause cellular metabolic disruption and result in abnormal neural development. - Source: PubMed
Publication date: 2025/08/29
Chapman Kimberly AUllah FaridYahiku Zachary AKhan SherazKodiparthi Sri VarshaKellaris GeorgiosWhite Hazel GPowell Andrew TCorreia Sandrina PStödberg TommySofocleous ChristalenaMarinakis Nikolaos MFryssira HelenaTsoutsou EiriniTraeger-Synodinos JanAccogli AndreaSciruicchio VittorioSalpietro VincenzoStriano PasqualeMuss CandaceKeren BorisHeron DelphineBerger Seth IPond Kelvin WSirimulla SumanDavis Erica EBhattacharya Martha R C - Disruption of endolysosomal acidification causes toxic protein accumulation and neuronal dysfunction linked to neurodevelopmental and neurodegenerative disorders. However, the molecular mechanisms regulating neuronal endolysosomal pH remain unclear. Transmembrane protein 184B (TMEM184B) is a conserved seven-pass transmembrane protein that is essential for synaptic function, and its sequence disruption is associated with neurodevelopmental disorders. Here, we identify TMEM184B as a key regulator of endolysosomal acidification. TMEM184B localizes to early and late endosomes, and proteomic analysis confirms that TMEM184B interacts with endosomal proteins, including the vacuolar ATPase (V-ATPase), a multi-subunit proton pump crucial for lumenal acidification. Tmem184b-mutant mouse cortical neurons have reduced endolysosomal acidification compared to wild-type neurons. We find reductions in V-ATPase complex assembly in Tmem184b-mutant mouse brains, suggesting that TMEM184B facilitates endosomal flux by promoting V-ATPase activity. These findings establish TMEM184B as a regulator of neuronal endolysosomal acidification and provide mechanistic insight into its role in TMEM184B-associated nervous system disorders. - Source: PubMed
Publication date: 2025/08/08
Wright Elizabeth BLarsen Erik GPadilla-Rodriguez MarcoLanglais Paul RBhattacharya Martha R C