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IGFALS

Chr 16p13.3

insulin like growth factor binding protein acid labile subunit

Aliases:
ALS
MANE:
ENST00000215539.4

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • IUGR and IGF abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic short stature

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Reduced insulin like growth factor binding protein acid labile subunit concentration

    0.77
  • short stature due to primary acid-labile subunit deficiency

    0.71
  • Abnormality of the skeletal system

    0.46
  • Delayed puberty

    0.37
  • Short stature

    0.37
  • short stature due to GHSR deficiency

    0.37
  • hereditary disease

    0.19
  • hypertensive disorder

    0.11
  • Blount disease

    0.08
  • familial digital arthropathy-brachydactyly

    0.08

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

Protein function (UniProt)

Insulin-like growth factor-binding protein complex acid labile subunit

Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion

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.