PSTPIP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Autoinflammatory disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Periodic fever syndromes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial hidradenitis suppurativa

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Generalised pustular psoriasis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• pyogenic arthritis-pyoderma gangrenosum-acne syndrome

  0.77

• Pyogenic arthritis - pyoderma gangrenosum - acne

  0.72

• hyperzincemia with functional zinc depletion

  0.59

• Behcet disease

  0.46

• type 2 diabetes mellitus

  0.38

• Recurrent infections - inflammatory syndrome due to zinc metabolism disorder

  0.37

• rheumatoid arthritis

  0.37

• coronary artery disorder

  0.31

• Abnormality of the skeletal system

  0.29

• migraine disorder

  0.29

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

Protein function (UniProt)