SLC6A7 encodes a brain-specific sodium and chloride-dependent proline transporter that terminates proline neurotransmitter action through high-affinity reuptake into presynaptic terminals 1. The protein functions as an L-proline transmembrane transporter with proline:sodium symporter activity, facilitating neurotransmitter transport across plasma membranes. Disease relevance includes associations with asthma susceptibility, where polymorphisms in the SLC6A7 gene significantly correlate with asthma risk and bronchodilator response 2. Loss-of-function variants contribute to complex neurodevelopmental disorders characterized by severe dystonia, developmental delay, and motor dysfunction 1. Functional studies demonstrate that SLC6A7 variants cause decreased proline transport due to reduced cell-surface expression, and zebrafish knockdown models exhibit developmental delays and fragile motor neuron morphology 1. Additionally, SLC6A7 shows potential interactions with other SLC6 family transporters, suggesting broader pharmacological targets 3. The gene may also play roles in cellular proliferation and migration, as demonstrated in chordate models where SLC6A7 overexpression significantly suppressed cell growth and migration 4. Clinical significance extends to potential involvement in rotator cuff pathology and cervical cancer progression 56.