IGFALS gene

insulin like growth factor binding protein acid labile subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

From UniProt:

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

From NCBI Gene:

  • Acid-labile subunit deficiency

From UniProt:

Acid-labile subunit deficiency (ACLSD): A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. [MIM:615961]

Cytogenetic Location: 16p13.3, which is the short (p) arm of chromosome 16 at position 13.3

Molecular Location: base pairs 1,790,413 to 1,794,908 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p13.3, which is the short (p) arm of chromosome 16 at position 13.3
  • ACLSD
  • ALS