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SLC6A9

Chr 1p34.1

solute carrier family 6 member 9

Aliases:
GLYT1, GlyT-1
MANE:
ENST00000372310.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • atypical glycine encephalopathy

    0.77
  • neurodegenerative disease

    0.42
  • schizophrenia

    0.41
  • arthrogryposis

    0.37
  • infantile glycine encephalopathy

    0.37
  • erythropoietic protoporphyria

    0.32
  • hereditary disease

    0.19
  • attention deficit-hyperactivity disorder

    0.13
  • Hematemesis

    0.13
  • metabolic disease

    0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium- and chloride-dependent glycine transporter 1

Sodium- and chloride-dependent glycine transporter (PubMed:37962965, PubMed:8183239). Essential for regulating glycine concentrations at inhibitory glycinergic synapses

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.