SLC6A5 gene

solute carrier family 6 member 5

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

From NCBI Gene:

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

From UniProt:

Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hyperekplexia 3

From UniProt:

Hyperekplexia 3 (HKPX3): A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. [MIM:614618]

Cytogenetic Location: 11p15.1, which is the short (p) arm of chromosome 11 at position 15.1

Molecular Location: base pairs 20,599,400 to 20,659,285 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.1, which is the short (p) arm of chromosome 11 at position 15.1
  • GLYT-2
  • GLYT2
  • HKPX3
  • NET1