SLC37A4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Glycogen storage disease due to glucose-6-phosphatase deficiency type b

  0.83

• Glycogen storage disease due to glucose-6-phosphatase deficiency

  0.83

• glycogen storage disease Ib

  0.78

• congenital disorder of glycosylation, type IIw

  0.76

• disorder of glycogen metabolism

  0.58

• glycogen storage disease I

  0.51

• hereditary disease

  0.42

• Glycogen storage disease due to glycogenin deficiency

  0.37

• glycogen storage disease type 1 due to SLC37A4 mutation

  0.37

• Decreased total neutrophil count

  0.27

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

Protein function (UniProt)