Septin 9 (SEPT9) (SEPT9)

Septin 9 (SEPT9) is a member of the septin family of GTP-binding proteins that play a critical role in the formation of the cytoskeleton, specifically during cytokinesis and cell cycle regulation [1]. The SEPT9 gene produces multiple transcript variants, and the hypermethylation of the promoter region of the v2 transcript is a well-documented epigenetic alteration in colorectal cancer [2]. This methylation leads to the silencing of the gene, which is thought to contribute to tumorigenesis by disrupting normal cell division and genomic stability [3]. The presence of methylated SEPT9 DNA (mSEPT9) in blood plasma serves as a highly specific biomarker for the early detection of colorectal cancer, leading to the development of FDA-approved liquid biopsy screening tests [4]. While SEPT9 is not currently a direct target for therapeutic drugs, its role as a diagnostic and prognostic marker is significant in clinical oncology [5]. Research also suggests that SEPT9 may be involved in other malignancies, including breast and prostate cancers, where its expression levels are often dysregulated [6]. The detection of mSEPT9 provides a non-invasive alternative to traditional screening methods like colonoscopy, although it is generally used as a complementary tool [4].

Other names

SEPT9Septin-9M-SEPT9Septin 9 v2AF17q25SINT1