Ask about this productRelated genes to: CANT1 antibody
- Gene:
- CANT1 NIH gene
- Name:
- calcium activated nucleotidase 1
- Previous symbol:
- -
- Synonyms:
- SHAPY, SCAN-1
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-17
- Date modifiied:
- 2018-04-09
Related products to: CANT1 antibody
Related articles to: CANT1 antibody
- Proteoglycans are a major component of the connective tissue matrix, which consists of a core protein and covalently attached glycosaminoglycan (GAG) chains, which are highly sulfated polysaccharides with a tetrasaccharide linker for the core protein attachment. Impaired synthesis or degradation of GAG causes genetic disorders. In the 1950s, deficient lysosomal GAG degradation was discovered in mucopolysaccharidoses. In the 1990s, a defective enzyme for GAG synthesis was implicated in a variant of Ehlers-Danlos syndrome and an impaired GAG sulfation in diastrophic dysplasia. Newer studies have uncovered that abnormal GAG synthesis causes a large group of genetic skeletal disorders with joint and skin abnormalities. - Source: PubMed
Publication date: 2026/02/26
Tsujioka YukoSimsek Kiper Pelin OzlemUnger SheilaHanda AtsuhikoKono TatsuoJinzaki MasahiroRossi AntonioSuperti-Furga AndreaNishimura Gen - Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare the genetic characteristics and long-term clinical follow-up findings of 22 patients with MED from 17 unrelated families. Molecular diagnosis was performed using clinical exome analysis and exome sequencing. Seventeen children were followed for a median of 5.5 years. Eighteen disease-related variants were identified: 47% in , 11.8% each in and in a monoallelic state, 17.6% in , and 11.8% each in and in a biallelic state. Some mutations previously identified in pseudoachondroplasia, an allelic disorder of MED1, were shown in our study to exhibit a typical MED1 or intermediate phenotype. In contrast, it was confirmed that certain mutations in lead to MED4 phenotype. Furthermore, it has been observed that biallelic variants in may be associated with the MED5 phenotype. In patients with MED2 and MED3, the knee joint is affected, while in other types, the hip joint is predominantly affected. In 15 children followed until ages 11-18, height decreased slightly as they grew older but remained normal or at the lower limit, and slow progression was observed in the waddling gait and joint pain, except in the intermediate form. This study reveals the frequency of disease-related variants, including seven novel ones, in genes leading to MED1-5 and 7 phenotypes, and expands the spectrum of genetic and clinical phenotypes. - Source: PubMed
Publication date: 2026/04/15
Taner Hasan EmirUludağ Alkaya DilekKalyoncu Uçar AyşeŞeker AliCentel TuncayYıldırım TimurGüneş NilayTüysüz Beyhan - Mutations in a specific protein called calcium-activated nucleotidase 1 (Cant1) cause skeletal deformities, but the role of Cant1 in these deformities remains unclear. This study shows how Cant1 acts as a key regulator of bone and cartilage health. We found that Cant1 binds to and stabilizes a protein called Wnt/β-Catenin. Wnt/β-Catenin then enters the cell nucleus to activate specific genes. One of these genes, CHSY1, is turned on to produce building blocks such as collagen and sugars that form the extracellular matrix (ECM), which acts as the scaffolding of cartilage. When Cant1 and Wnt/β-Catenin expression are suppressed, there is a reduction in glycosaminoglycans (GAGs; mucopolysaccharides) and proteoglycans (like ACAN), which create a hydrated, gel-like matrix by binding with hyaluronan and link proteins to make cartilage resistant to compression. Additionally, there is a decrease in the α-1 chain of type II collagen (COL2α1), which forms the structural mesh or framework that gives tissue its tensile strength. In summary, we identified a conserved signaling pathway, the Cant1/β-Catenin/transcription factor 4 (TCF4)-CHSY1 axis, that regulates ECM homeostasis during skeletal development. Dysfunction of this pathway is a core cause of skeletal disorders. These findings not only provide mechanistic insights into human Cant1-related skeletal diseases but also highlight potential new targets for broad-spectrum therapies aimed at correcting deficiencies in ECM biosynthesis. - Source: PubMed
Publication date: 2026/04/01
Li YuanliangYu WenqiLi YingxinLiu KaiXu WenjingLi CongLi YuguLi YingTang ZhaoxinChang Yung-FuLi AoyunZhang Hui - Triple-negative breast cancer (TNBC) is one of the most aggressive breast cancer subtypes, with limited targeted treatment options and poor clinical outcomes. Calcium-activated nucleotidase 1 (CANT1), a calcium dependent enzyme involved in nucleotide metabolism and glycoprotein processing, has attracted limited attention in oncology and its clinical relevance in breast cancer remains unknown. The present study hypothesized that CANT1 expression may carry prognostic information in TNBC and evaluated its association with clinicopathologicalal features and survival. In the present retrospective study, 59 non-metastatic patients with TNBC who underwent curative surgery were included. CANT1 expression was assessed using immunohistochemistry and semiquantitatively scored using an H-score ranging from 1-300. Patients were categorized into three groups according to H-score (H1, 1-100; H2, 101-200; H3, 201-300). Associations between CANT1 expression and clinicopathologicalal variables were analyzed using the χ or Fisher's exact test and survival outcomes were evaluated using the Kaplan-Meier method, log-rank test and Cox proportional hazards model. CANT1 expression was successfully evaluated in all tumors: 15 patients (25.4%) were classified as H1, 29 (49.2%) as H2 and 15 (25.4%) as H3. The median overall survival (OS) for the entire cohort was 40.2 months, with a median follow-up of 48.4 months. Median OS by expression group was 29.2 months in H1, 36.7 months in H2 and not reached in H3 (log-rank P=0.033). In the multivariable analysis, high CANT1 expression (H3 vs. H1) remained independently associated with improved OS (P=0.048; hazard ratio=0.149; 95% CI, 0.031-0.715). To the best of our knowledge, the present study is the first to investigate CANT1 expression in TNBC. High CANT1 expression was significantly assocaited with improved OS, suggesting that CANT1 may serve as a novel prognostic biomarker in TNBC. Further multicenter and mechanistic studies are warranted to clarify its biological role and prognostic utility. - Source: PubMed
Publication date: 2026/03/09
Bayram DoğanÇolak AyselKarabulut ŞefikaÖzsan Çelebi Sema NurHafizoğlu EmreTürkay Duriye ÖzerBal ÖznurAlgin EfnanYücel ŞebnemŞendur Mehmet Ali NahitCivelek BurakUçar Gökhan - - Source: PubMed
Publication date: 2026/03/12
Sai Ramya VKumar SanjayGuddeti ArunHari Kumar K V S