CBLC
- Known as:
- CBLC
- Catalog number:
- Y214422
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- CBLC
Related genes to: CBLC
- Gene:
- CBLC NIH gene
- Name:
- Cbl proto-oncogene C
- Previous symbol:
- -
- Synonyms:
- CBL-3, CBL-SL, RNF57
- Chromosome:
- 19q13.32
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-25
- Date modifiied:
- 2019-04-23
Related products to: CBLC
anti-CBLCanti-CBLCanti-CBLC , Rabbit polyclonal to CBLC , Isotype IgG, Host RabbitBovine methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC) ELISA kit, Species Bovine, Sample Type serum, plasmaCas-Br-M (murine) Ectropic Retroviral Transforming Sequence C (CBLC) Rabbit anti-Human Polyclonal (aa444-458) AntibodyCasitas B_lineage lymphoma c, C_terminus (CBLC) polyclonal antibodyCasitas B_lineage lymphoma c, N_terminus (CBLC) polyclonal antibodyCBL Gene Cas-Br-M (murine) ecotropic retroviral transforming sequenceCBL3,CBLC,Homo sapiens,Human,RING finger protein 57,RNF57,SH3-binding protein CBL-3,SH3-binding protein CBL-C,Signal transduction protein CBL-CCbl3,Cblc,Mouse,Mus musculus,SH3-binding protein CBL-3,SH3-binding protein CBL-C,Signal transduction protein CBL-CCBLC RNF57 antibody Ab host: RabbitCBLC RNF57 (444-458) IgG antibody Ab host: RabbitCBLC RNF57 (C-term) Ig antibody Ab host: RabbitCBLC RNF57 (N-term) Ig antibody Ab host: RabbitCBLC RNF57 Control Peptide antibody Ab CP Related articles to: CBLC
- This study aims to screen and validate the differentially expressed gene synaptophysin 1 (SYT1), which plays a key regulatory role in prostate cancer, explore its function and potential regulatory mechanisms, and clarify its biological role and molecular mechanisms in the malignant progression of prostate cancer. - Source: PubMed
Publication date: 2026/05/12
Tong JianyongHu LiangLiu QuanqiTian Daxue - Cobalamin C (cblC) deficiency is one of the most common congenital vitamin B12 metabolic abnormalities, and may cause severe neurologic symptoms, gastrointestinal and nephritic symptoms. - Source: PubMed
Cui XuxiaZhong YajingYin Chongjuan - Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early-onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive visual loss in the majority. We reviewed a cohort of 10 patients with cblC disease, all identified either by NBS or a neonatal clinical presentation. We reviewed their biochemical control and correlated this with clinical progress and treatment. The majority of the cohort (including four asymptomatic patients) was identified through NBS and had genotypes predictive of early-onset disease. Clinical outcomes improved with standard-of-care treatment (hydroxocobalamin, betaine, and folinic acid) but were suboptimal, with both neurocognitive (6/10) and ophthalmological manifestations (10/10) occurring in most patients. One patient died at 5 months of age, and it is unclear whether this was related to cblC disease or not. Across over 250 timepoints from 9 patients, there was minimal correlation between cumulative intramuscular hydroxocobalamin (OHCbl) dose and biomarkers, including methylmalonic acid ( = 0.0031) and total homocysteine ( = 0.2858) levels. This study provides comprehensive, longitudinal biochemical, and clinical follow-up of patients with cblC disease treated from soon after birth, often presymptomatically. Our findings corroborate previous observations regarding the lack of correlation of current biomarkers, both with disease progression and with standard (< 0.3 mg/kg/day) hydroxocobalamin dosing. Further investigation of the clinical impact of early high-dose OHCbl treatment is needed in larger cohorts of patients. - Source: PubMed
Publication date: 2026/04/27
Selvanathan ArthavanHertzog AshleyRussell JacquiJunek RosieEllaway CarolynLichkus KateTolun Adviye AyperBhattacharya Kaustuv - - Source: PubMed
Publication date: 2026/04/19
Škopková MartinaKabelíková PavlínaAndrésová AndreaBrennerová KatarínaDallemule SilviaSabo MiroslavPetrovič RóbertGašperíková Daniela - Methylmalonic acidemia with homocystinuria (MMA-HC) is a rare inherited metabolic disorder characterized by diverse and nonspecific clinical manifestations. Here, we report the first case of MMA-HC presenting in the postpartum period, aiming to enhance clinicians' awareness and diagnostic capabilities regarding this condition. This will help prevent misdiagnosis and missed diagnosis, thereby enabling timely and effective treatment for patients. A 17-year-old woman who underwent cesarean section presented with encephalitis-like symptoms shortly after childbirth, including fever, headache, psychiatric disturbances, and limb weakness, accompanied by a progressive macrocytic anemia that worsened significantly from the late prenatal to the early postpartum period, along with markedly elevated red cell distribution width (RDW) and leukopenia and severe hyperhomocysteinemia. Genetic testing confirmed cblC-type MMA-HC. A metabolic crisis was triggered after administering valproate for seizures. The patient was effectively treated with a multidisciplinary approach, highlighting the importance of careful clinical monitoring and systematic metabolic screening in peripartum women presenting with progressive hematological abnormalities and encephalopathic symptoms. It further validates the critical role of early diagnosis and multidisciplinary comprehensive treatment in managing complex inherited metabolic disorders, thereby contributing to enhanced overall diagnostic and therapeutic standards. - Source: PubMed
Publication date: 2026/03/11
Wang QianqianJi ZhongminWang YuzhongQi Ziyou