Aliases for SLC6A17 Gene
External Ids for SLC6A17 Gene
Previous GeneCards Identifiers for SLC6A17 Gene
The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
GeneCards Summary for SLC6A17 Gene
SLC6A17 (Solute Carrier Family 6 Member 17) is a Protein Coding gene. Diseases associated with SLC6A17 include Mental Retardation, Autosomal Recessive 48 and Tremor. Among its related pathways are NRF2 pathway. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A15.
UniProtKB/Swiss-Prot Summary for SLC6A17 Gene
Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity).