LTV1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.51

• Parkinson disease

  0.46

• lysosomal storage disease

  0.46

• multiple sclerosis

  0.46

• Alzheimer disease

  0.46

• inflammatory poikiloderma with hair abnormalities and acral keratoses

  0.42

• breast carcinoma

  0.08

• breast cancer

  0.08

• central nervous system cancer

  0.06

• glioma

  0.06

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

Protein function (UniProt)