AP2S1
- Known as:
- AP2S1
- Catalog number:
- 001725A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AP2S1
Related genes to: AP2S1
- Gene:
- AP2S1 NIH gene
- Name:
- adaptor related protein complex 2 subunit sigma 1
- Previous symbol:
- CLAPS2, HHC3
- Synonyms:
- FBHOk, FBH3
- Chromosome:
- 19q13.32
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-01
- Date modifiied:
- 2018-04-23
Related products to: AP2S1
Related articles to: AP2S1
- Familial hypocalciuric hypercalcaemia (FHH) is a rare, benign genetic disorder of calcium homeostasis caused by inactivating variants in CaSR, GNA11, or AP2S1 genes. It is typically characterised by mild, asymptomatic hypercalcaemia and low urinary calcium excretion. Differentiation from primary hyperparathyroidism (PHPT) is essential, as misdiagnosis can lead to unnecessary surgery. We report a case of FHH type 1 (FHH1) in a man in his thirties presenting with a serum calcium level of 2.97 mmol/L, which is at the severe end of the FHH spectrum. Genetic testing revealed a heterozygous CaSR nonsense variant (NM_000388.4:c.1942C>T, p.Arg648Ter) consistent with FHH1. The patient had clinically stable hypercalcaemia, which was not treated. During follow-up, he developed gallstones treated with a laparoscopic cholecystectomy. A review of the literature demonstrated that calcium levels approaching 3 mmol/L, although uncommon, have been reported in other cases of FHH1. We review the literature regarding a potential association between FHH and gallstones. This case highlights that FHH can present with relatively marked hypercalcaemia, reinforcing the need for genetic evaluation before surgery, and suggests a possible but under-explored relationship between FHH and gallstone disease. - Source: PubMed
Sabo AdamMcGovern Andrew - Familial hypocalciuric hypercalcemia (FHH) can mimic primary hyperparathyroidism (PHPT), yet commonly used 24-hour urine calcium (UCa) and calcium:creatinine clearance ratio (CCCR) thresholds may not reliably identify patients with FHH before parathyroidectomy. - Source: PubMed
Publication date: 2026/08/24
Taylor George ADream SophieDoffek KaraYen Tina WShaker Joseph LEvans Douglas BWang Tracy S - [This corrects the article DOI: 10.3389/fimmu.2026.1820174.]. - Source: PubMed
Publication date: 2026/06/05
Ma FengyuShen KelvWu ZiqiangYang HanshiYu MingzheHuang ZhendongHan FengxuanLu Zhengfeng - Intervertebral disc degeneration (IDD) is increasingly viewed as an immune-perturbed and metabolically stressed niche rather than a purely mechanical or aging-related disorder. Mesenchymal stromal cells (MSCs) and their extracellular vesicles (EVs) may shape local immune signaling, yet MSC EV-associated transcriptional programs and their immune-network context remain poorly defined at single-cell resolution. - Source: PubMed
Publication date: 2026/05/22
Ma FengyuShen KelvWu ZiqiangYang HanshiYu MingzheHuang ZhendongHan FengxuanLu Zhengfeng - BACKGROUND: Membranous nephropathy (MN) is a leading cause of nephrotic syndrome in adults, being driven by incompletely understood autoimmune mechanisms. Emerging evidence suggests that γ-aminobutyric acid (GABA), traditionally considered a neurotransmitter, also functions as a critical immunomodulator in peripheral tissues. Dysregulation of GABAergic signaling has been linked to altered immune cell trafficking and metabolic stress in renal pathologies. However, its specific role and signature genes in MN pathogenesis have not been systematically characterized. This study aimed to identify novel GABA-associated biomarkers for MN and elucidate their potential mechanistic roles. RESULTS: By integrating differential expression analysis, weighted gene coexpression network analysis, and machine learning algorithms on public transcriptomic datasets, we identified three robust GABA-associated candidate biomarkers: AP2S1, STXBP1, and GNGT2. These genes were consistently upregulated in patients with MN across both the training and validation cohorts. Functional enrichment analysis revealed their significant involvement in vesicle trafficking, cytochrome P450 metabolism, and cell adhesion pathways. Immune infiltration analysis demonstrated that these biomarkers had strong positive correlations with central memory CD4 + T cells and myeloid-derived suppressor cells. Furthermore, molecular docking simulations indicated high binding affinities between these targets and potential therapeutic compounds, including valproic acid and genistein. Crucially, reverse transcription quantitative polymerase chain reaction validation in an independent clinical cohort (n = 10) confirmed significantly elevated expression of AP2S1, STXBP1, and GNGT2 in the peripheral blood of patients with MN versus healthy controls (P < 0.05). CONCLUSION: This study established a distinct GABAergic signature in MN, highlighting AP2S1, STXBP1, and GNGT2 as promising noninvasive diagnostic biomarkers. Our findings suggested that GABA-related vesicle trafficking and metabolic pathways contribute to the autoimmune microenvironment in MN. These genes offer new avenues for early diagnosis and represent potential therapeutic targets for precision medicine strategies in managing MN. - Source: PubMed
Publication date: 2026/04/22
Luo JieChen MinLi JingQi YueChen TingyuNie Huibin