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SLC6A9

Function

Sodium- and chloride-dependent glycine transporter (PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses.

Isoform GlyT-1B

Sodium- and chloride-dependent glycine transporter.

Isoform GlyT-1C

Sodium- and chloride-dependent glycine transporter.

Involvement in disease

Glycine encephalopathy with normal serum glycine

GCENSG

An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A9 subfamily.

Tissue Specificity

Isoform GlyT-1A

Expressed in the brain, kidney, pancreas, lung, placenta and liver.

Isoform GlyT-1B

Expressed in the brain, kidney, pancreas, lung, placenta and liver.

Isoform GlyT-1C

Expressed only in the brain.

Cellular localization

Alternative names

Sodium- and chloride-dependent glycine transporter 1, GlyT-1, GlyT1, Solute carrier family 6 member 9, SLC6A9

swissprot:P48067 omim:601019 entrezGene:6536 swissprot:Q5TAB8 swissprot:Q5TAB9 swissprot:Q5TAC0