Clinical Importance
This gene has been implicated in X linked mental retardation.
Using immunohistochemistry, synaptophysin can be demonstrated in a range of neural and neuroendocrine tissues, including cells of the adrenal medulla and pancreatic islets. As a specific marker for these tissues, it can be used to identify tumours arising from them, such as neuroblastoma, retinoblastoma, phaeochromocytoma, carcinoid, and medullary thyroid carcinoma, among others. Diagnostically, it is often used in combination with chromogranin A.
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