Ask about this productRelated genes to: FLCN Blocking Peptide
- Gene:
- FLCN NIH gene
- Name:
- folliculin
- Previous symbol:
- -
- Synonyms:
- BHD, MGC17998, MGC23445
- Chromosome:
- 17p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-08-05
- Date modifiied:
- 2019-04-23
Related products to: FLCN Blocking Peptide
Related articles to: FLCN Blocking Peptide
- Renal cell neoplasms with FLCN mutations, classically seen in Birt-Hogg-Dubé (BHD) syndrome typically include oncocytoma, chromophobe RCC, and hybrid oncocytic/chromophobe tumors (HOCT). Recent studies have highlighted FLCN-mutated renal cell carcinomas (RCCs) with unclassified morphologies, raising diagnostic challenges. - Source: PubMed
Publication date: 2026/04/16
Ding Chien-Kuang CChan EmilyLotan Tamara LHang Jen-FanGreenland Nancy YStohr Bradley ASimko Jeffry PSirohi Deepika - B cell development relies on stringent checkpoints that ensure immune competence and eliminate autoreactive clones. Transitional B cells (B220CD93), which emerge from the bone marrow, migrate to the spleen and differentiate into follicular (FO) or marginal zone (MZ) B cells, a process governed by B cell receptor (BCR) signaling strength, metabolic fitness, and survival cues. Here, we identify Folliculin Interacting Protein 1 (Fnip1) as a key regulator of this developmental transition. Using conditional Fnip1-deficient mice (), loss of Fnip1 results in a developmental arrest at the transitional B220CD93 stage, severely limiting differentiation into FO and MZ B cells and leading to accumulation of a distinct enlarged CD19, RAG negative B cells. Fnip1 modulates BCR signaling thresholds and metabolic programming by regulating the AMPK/FLCN/TFEB and CD19/PI3K/Akt/mTORC1 pathways through restricting TFEB access to the nucleus. Using the MD4/mHEL/sHEL tolerance model, we show that Fnip1 is dispensable for negative selection but is essential for maintaining peripheral tolerance. Together, our findings define Fnip1 as a metabolic gatekeeper that integrates nutrient-sensing pathways with BCR signaling to orchestrate transitional B cell fate decisions, promote peripheral tolerance, and maintain immune homeostasis. - Source: PubMed
Publication date: 2026/04/01
Park HeonCulbert RyanSakya DechenSilprasert Raynah RIritani Brian M - Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by germline pathogenic variants in FLCN. Here, we describe an oncocytic tumor in the thyroid harboring pathogenic FLCN alterations. The tumor showed indolent clinical behavior and was composed of solid sheets of oncocytic cells with abundant granular eosinophilic cytoplasm. Mitochondrial genome sequencing demonstrated preserved mitochondrial architecture without pathogenic mitochondrial DNA alterations. In vitro functional studies demonstrated that FLCN deficiency was associated with global attenuation of canonical phosphorylation-dependent signaling pathways, activation of AMPK signaling, upregulation of GPNMB, and increased expression of the mitochondrial marker Prohibitin, consistent with a cellular stress response. RNA sequencing analyses further indicated coordinated suppression of multiple metabolic and signaling pathways. These findings suggest that an FLCN-mutated oncocytic tumor in the thyroid represents a biologically distinct subset driven primarily by compensatory mitochondrial biogenesis rather than by classical oncogenic signaling activation or primary mitochondrial genome instability. - Source: PubMed
Publication date: 2026/04/02
Kong WeimaoBao LongnvLiu ZhiyanLi GuangqiGu HaiyanAllison Derek BZhang WeiLyu ShuhanPan XingzhuLiu YanjunZhang TinglingZhang XinyiWang Jigang
- Source: PubMed
- Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary genodermatosis associated with a mutation in the folliculin (FLCN) gene. Diagnostic criteria for this disease were first established in 2009; however, researchers have recently come across new germline mutations and resulting phenotypes. This review reassessed current guidelines by taking into consideration the incomplete forms of the syndrome as patients may have clinical features of BHD without a FLCN gene mutation. Individuals who share any characteristics of the syndrome should be screened for BHD since patient outcomes depend heavily on early detection. - Source: PubMed
Publication date: 2026/01/30
Brown MadelineHwang JacquelineKhachemoune Amor