SLC6A17 gene

solute carrier family 6 member 17

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal recessive 48

From UniProt:

Mental retardation, autosomal recessive 48 (MRT48): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. [MIM:616269]

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3

Molecular Location: base pairs 110,150,510 to 110,202,202 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3
  • MRT48
  • NTT4