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GOT2 [Glutamate oxaloacetate transaminase] is a ubiquitous pyridoxal phosphate dependent enzyme which exists in both mitochondrial and cytosolic forms. The enzyme plays an important role in amino acid metabolism and in the urea and tricarboxylic acid cycles. The 2 isoenzymes are homodimeric. In liver about 80% of the enzyme activity is mitochondrial in origin, whereas in serum the enzyme activity is largely cytosolic. Although the mitochondrial and soluble forms of GOT are coded by differen

Syntaxin 1a is potentially involved in docking of synaptic vesicles at presynaptic active zones and may play a critical role in neurotransmitter exocytosis. Haploinsufficiency of STX1A may be the cause of certain cardiovascular and musculo skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder.

The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription

APLP2 is a human sperm membrane protein which contains a segment with high homology to the transmembrane-cytoplasmic domains of APP found in brain plaques of Alzheimer disease patients. The human amyloid precursor-like protein APLP2 is a highly conserved homolog of a sequence-specific DNA-binding mouse protein with an important function in the cell cycle. The gene which encodes APLP2 maps to human chromosome 11q24.$nMay play a role in the regulation of hemostasis. The soluble form may have inhi