STX16

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Severe early-onset obesity

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial hypoparathyroidism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• pseudohypoparathyroidism type 1B

  0.67

• Obesity

  0.37

• obesity due to melanocortin 4 receptor deficiency

  0.37

• obesity disorder

  0.37

• female reproductive system disorder

  0.35

• menopausal or post-menopausal disease

  0.34

• portal hypertension

  0.24

• chronic laryngitis

  0.24

• hereditary disease

  0.19

• intracranial hemorrhage

  0.18

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

Protein function (UniProt)