Also known as
AST, ISSD, NSD, SD, SIALIN, SIASD, SLD
Overview
SLC17A5 (solute carrier family 17 member 5) is a gene that encodes a protein called vesicular glutamate transporter 2 (VGLUT2). This protein is a membrane-bound protein that is found in certain types of nerve cells in the brain and spinal cord. It is responsible for the transport of the neurotransmitter glutamate into vesicles (small, membrane-bound sacs) within the cells.
Glutamate is an important neurotransmitter that plays a key role in the communication between nerve cells in the brain and is involved in a wide range of physiological processes, including learning, memory, and the control of muscle movement. Vesicular glutamate transporter 2 is essential for the proper functioning of the nervous system, as it helps to ensure that sufficient levels of glutamate are available for release into the synapse (the gap between two nerve cells) during neurotransmission.
Deficiencies or mutations in the SLC17A5 gene have been linked to several neurological disorders, including hereditary spastic paraplegia (a type of inherited nerve disorder that affects the legs) and X-linked intellectual disability (a form of mental impairment that is caused by a genetic mutation on the X chromosome).
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