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GenoLensGenoLens

LSR

Chr 19q13.12

lipolysis stimulated lipoprotein receptor

Aliases:
LISCH7, ILDR3
MANE:
ENST00000605618.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.34
  • progressive familial intrahepatic cholestasis

    0.27
  • progressive familial intrahepatic cholestasis type 1

    0.27
  • Intellectual disability

    0.19
  • Short stature

    0.18
  • short stature due to GHSR deficiency

    0.18
  • lysosomal storage disease

    0.11
  • endometrial cancer

    0.07
  • lung adenocarcinoma

    0.07
  • neoplasm

    0.05

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

Protein function (UniProt)

Lipolysis-stimulated lipoprotein receptor

Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity). Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.