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Rabbit Anti-FAM193B/FITC Conjugated antibody
background:
FAM193B is a 902 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding FAM193B maps to human chromosome 5, which contains 181 million base pairs and encodes around 1,000 genes. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Function:
FAM193B, also known as IRIZIO, was initially identified as a protein that is upregulated in alveolar rhabdomyosarcoma (ARMS), a type of fast-growing tumor characterized by chromosomal translocations fusing the PAX3 or PAX7 gene with that of FOXO1. It has been suggested that, in addition to the PAX3-FOXO1 gene fusion, disruption of the Rb and p53 pathways is required for full ARMS tumorigenesis. In PAX3-FOXO1-expressing primary mouse fibroblasts that possessed a defective p53 pathway, FAM193B expression enabled the tumorigenic transformation, suggesting that FAM193B may contribute to rhabdomyosarcomagenesis in humans.
Similarity:
Belongs to the FAM193 family.
Database links:
Entrez Gene: 54540 Human
SwissProt: Q96PV7 Human
Unigene: 484289 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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