SLC6A7
Description
The SLC6A7 (solute carrier family 6 member 7) is a protein-coding gene located on chromosome 5.
SLC6A7 is a brain-specific transporter responsible for the reuptake of proline into presynaptic terminals. It functions by using sodium and chloride ions to transport proline against its concentration gradient, effectively terminating the action of proline. This high-affinity transport mechanism ensures the rapid removal of proline from the synaptic cleft, preventing prolonged signaling.
SLC6A7 is also known as PROT.
Associated Diseases
- urinary bladder carcinoma
- nonpapillary renal cell carcinoma
- pulmonary hypertension
- complex neurodevelopmental disorder