Anti-MSF/SEPTIN9 Antibody Picoband® Fluoro488 Conjugated

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.

Aldo-keto reductase family 1 member D1; 3-oxo-5-beta-steroid 4-dehydrogenase; Delta (4) -3-ketosteroid 5-beta-reductase; Delta (4) -3-oxosteroid 5-beta-reductase; AKR1D1; SRD5B1

Metabolic Signaling Pathways, Metabolism, Pathways and Processes, Signal Transduction, Cancer, Cardiovascular, Lipid and Lipoprotein Metabolism, Cancer Metabolism, Lipid Metabolism, Metabolic Signaling Pathway, Metabolism of Lipids and Lipoproteins, Cholesterol Metabolism, Lipids/Lipoproteins

Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta4-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-4-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one) .

1. Collie, A. M. B., Landsverk, M. L., Ruzzo, E., Mefford, H. C., Buysse, K., Adkins, J. R., Knutzen, D. M., Barnett, K., Brown, R. H., Jr., Parry, G. J., Yum, S. W., Simpson, D. A., Olney, R. K., Chinnery, P. F., Eichler, E. E., Chance, P. F., Hannibal, M. C. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. J. Med. Genet. 47: 601-607, 2010. 2. Hannibal, M. C., Ruzzo, E. K., Miller, L. R., Betz, B., Buchan, J. G., Knutzen, D. M., Barnett, K., Landsverk, M. L., Brice, A., LeGuern, E., Bedford, H. M., Worrall, B. B., Lovitt, S., Appel, S. H., Andermann, E., Bird, T. D., Chance, P. F. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology 72: 1755-1759, 2009. 3. Kalikin, L. M., Sims, H. L., Petty, E. M. Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. Genomics 63: 165-172, 2000.