GCLC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Familial hypercholesterolaemia

Disease associations (Open Targets)

• gamma-glutamylcysteine synthetase deficiency

  0.77

• cystic fibrosis

  0.37

• neurodegenerative disease

  0.37

• non-autoimmune hemolytic anemia

  0.37

• lung adenocarcinoma

  0.30

• bronchiectasis

  0.22

• hereditary disease

  0.19

• type 2 diabetes mellitus

  0.11

• diabetes mellitus

  0.10

• neoplasm

  0.09

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

Protein function (UniProt)