MAT1A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  Unknown

• Childhood onset dystonia, chorea or related movement disorder

  Unknown

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Disease associations (Open Targets)

• methionine adenosyltransferase deficiency

  0.81

• Brain demyelination due to methionine adenosyltransferase deficiency

  0.63

• hepatic methionine adenosyltransferase deficiency

  0.57

• Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

  0.38

• neurodegenerative disease

  0.38

• glaucoma

  0.31

• open-angle glaucoma

  0.29

• hereditary disease

  0.19

• hepatocellular carcinoma

  0.10

• metabolic dysfunction-associated steatohepatitis

  0.10

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

Protein function (UniProt)