ASPSCR1 Human
Description
Product Specs
The Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 (ASPSCR1) gene encodes a protein with a UBX domain, known to interact with glucose transporter type 4 (GLUT4). Functioning as a tether, ASPSCR1 regulates GLUT4 localization, sequestering it within intracellular vesicles in muscle and fat cells. Upon cellular stimulation, ASPSCR1 facilitates GLUT4 redistribution to the plasma membrane. The ASPSCR1 gene is involved in a translocation event with the transcription factor TFE3 gene, t(X;17)(p11;q25), observed in alveolar soft part sarcoma and renal cell carcinomas. This translocation results in the formation of an ASPSCR1-TFE3 fusion protein.
Product Science Overview
The ASPSCR1 gene, located on chromosome 17, plays a crucial role in the development of ASPS. The fusion of ASPSCR1 with TFE3 leads to the production of a chimeric protein that contributes to the oncogenic properties of the tumor . This fusion protein is believed to alter the regulation of gene expression, promoting tumor growth and metastasis .
Human recombinant ASPSCR1 refers to the artificially synthesized version of the ASPSCR1 protein. Recombinant proteins are produced through recombinant DNA technology, which involves inserting the gene of interest into a host organism, such as bacteria or yeast, to produce the protein in large quantities. This technology allows researchers to study the protein’s structure, function, and role in disease more effectively.
ASPS is an ultra-rare sarcoma, accounting for less than 1% of all soft tissue sarcomas . It typically affects adolescents and young adults and is known for its slow progression and high rate of metastasis, particularly to the lungs, bones, and brain . The standard treatment for ASPS includes surgical resection of the tumor, with radiotherapy and targeted therapies being used in cases where surgery is not feasible .
Recent advancements in the treatment of ASPS have focused on targeted therapies and immunotherapies . These approaches aim to inhibit the molecular pathways involved in tumor growth and metastasis. Despite the challenges in treating ASPS, ongoing research continues to explore new therapeutic strategies to improve patient outcomes.
In summary, the ASPSCR1 gene and its fusion with TFE3 play a pivotal role in the pathogenesis of Alveolar Soft Part Sarcoma. Understanding the molecular mechanisms underlying this fusion and developing targeted therapies are crucial steps toward improving the prognosis for patients with this rare and challenging cancer.
