This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with an Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing.
Fatty Acid-Binding Protein 2 (FABP2) is a cytoplasm protein that belongs to the Fatty-acid binding protein (FABP) family of calycin superfamily. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids. FABP2 is expressed in the small intestine and at much lower levels in the large intestine, the highest expression levels in the jejunum. FABP2 binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long-chain fatty acids. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis and may also help maintain energy homeostasis by functioning as a lipid sensor.
Fatty acid binding protein 3 (FABP3; also termed heart-type fatty acid binding protein) is a member of the intracellular lipid-binding protein family that may be essential in fatty acid transport; cell growth; cellular signaling and gene transcription. Previously FABP3 was involved in apoptosis-associated congenital cardiac malformations. FABP3 knockdown exhibited significant toxic effects on cardiac development and mitochondrial function; which may be responsible for the knockdown of FABP3-induced apoptosis. FABP3 as a candidate gene underlying the etiology of congenital heart defects. Overexpression of FABP3 inhibited cell growth and proliferation via negative regulation of the cell cycle and down-regulation of cell growth factors; but enhances cell survival in hypoxic or ischemic conditions. FABPs are known to be carrier proteins for transporting fatty acids and other lipophilic substances from the cytoplasm to the nucleus; where these lipids are released to a group of nuclear receptors such as peroxisome proliferator-activated receptors (PPARs).
Fatty Acid Binding Protein 3 (FABP3) is a small cytoplasmic protein (15 kDa) that is released from cardiac myocytes following an ischemic episode. Like the nine other distinct FABPs that have been identified, FABP3 is involved in active fatty acid metabolism where it transports fatty acids from the cell membrane to mitochondria for oxidation. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal-and cardiac-types. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. The FABP3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is also a candidate tumor suppressor gene for human breast cancer. FABP3 is a sensitive biomarker for myocardial infarction and can be detected in the blood within one to three hours of onset of pain.
Fatty acid-binding protein; adipocyte; also known as Adipocyte-type fatty acid-binding protein; Fatty acid-binding protein 4; Adipocyte lipid-binding protein; and FABP4; is a cytoplasm protein which belongs to thecalycin superfamily and Fatty-acid binding protein (FABP) family. In familial combined hyperlipidemia (FCHL); FABP4 correlated to body mass index (BMI); waist circumference and homeostasis model assessment (HOMA) index.FABP4 levels were associated with triglyceride-rich lipoproteins. In humans serum FABP4 levels correlate significantly with features of PCOS. It appears to be a determinant of atherogenic dyslipidemia. FABP4 pathway mediates the sebaceous gland hyperplasia in keratinocyte-specific Pten-null mice. FABP4 concentration significantly increased with an increasing of MS features and was strongly correlated with body-mass index; triglycerides; HDL-cholesterol concentrations and blood pressure. Patients in the highest quartile of FABP4 presented a six-fold increased odds ratio for MS and a three-fold increased odds for LD; adjusted by age; sex; body-mass index and the antiretroviral therapy. FABP4 is a strong plasma marker of metabolic disturbances in HIV-infected patients; and therefore; could serve to guide therapeutic intervention in this group of patients.
Fatty Acid-Binding Protein 4 (FABP4) is a cytoplasm protein that belongs to the fatty-acid binding protein (FABP) family of calycin superfamily. Fatty acid binding proteins are a family of small; highly conserved; cytoplasmic proteins that bind long-chain fatty acids. FABP4 is expressed in a differentiation-dependent fashion in adipocytes and is a critical gene in the regulation of the biological function of these cells. FABP4 is thought to participate in Lipid transport protein in adipocytes. FABP4 binds to the long chain fatty acids and retinoic acid; delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus. FABP4 modulates inflammatory responses and cholesterol ester accumulation. FABP4 is a plasma marker of metabolic disturbances in HIV-infected patients; and therefore; could serve to guide therapeutic intervention in this group of patients.
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