septin-9 (MLL septin-like fusion protein, MLL septin-like fusion protein MSF-A, ovarian/Breast septin, Ov/Br septin, septin D1, SEPT9, KIAA0991, MSF)
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Function
- role in cytokinesis (putative)
- role as ovarian tumor suppressor
- interacts with RTKN
Structure
belongs to the septin family
Compartment
Alternative splicing
named isoforms=6
Expression
- expressed ubiquitously
- isoforms are differentialy expressed in testes, kidney, liver, heart, spleen, brain, peripheral blood leukocytes, skeletal muscle, kidney
- specific isoforms appear to demonstrate tissue specificity
- isoform 5 is the most highly expressed in fetal tissue
- isoform 1 is detected in all tissues except the brain & thymus
- isoforms 2, 3, & 4 are detected at low levels in half of fetal tissues
Pathology
- chromosomal translocation t(11;17)(q23;q25) involving SEPT9 with MLL is found in therapy-related acute myeloid leukemia
Laboratory
- plasma methylated Septin 9 DNA (Epi proColon) has been recommended for FDA-approval for colon cancer screening March 2014
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9UHD8.html
- ↑ Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org/Genes/MSFID208.html
- ↑ Young K Physician's First Watch, March 27, 2014 David G. Fairchild, MD, MPH, Editor-in-Chief Massachusetts Medical Society http://www.jwatch.org