SLC39A4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Generalised pustular psoriasis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• acrodermatitis enteropathica

  0.84

• hereditary disease

  0.47

• disorder of zinc metabolism

  0.37

• spondylolisthesis

  0.19

• ventricular septal defect

  0.15

• neoplasm

  0.10

• pancreatic neoplasm

  0.09

• familial pancreatic carcinoma

  0.09

• MODY

  0.08

• alcohol drinking

  0.08

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

Protein function (UniProt)