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Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) ; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impai

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