Gene: SLC6A17

Alternate names for this Gene: MRT48|NTT4

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.3

Description of this Gene: solute carrier family 6 member 17

Type of Gene: protein-coding

rs535930 in SLC6A17 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs535930 in SLC6A17 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs535930 in SLC6A17 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs775085213 in SLC6A17 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 PMID 25704603 2015 Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.