SLC6A17 (Entrez ID: 388662)

Entrez Gene ID 388662
Official Gene Symbol SLC6A17 (GeneCards)
Full name solute carrier family 6 member 17
Location 1p13.3
Other ids Vega : OTTHUMG00000011761
MIM : 610299
HGNC : HGNC:31399
Ensembl : ENSG00000197106
Other names NTT4, MRT48
Summary 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]

Variants

Found 2 variants in this database.