Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
which in humans is encoded by the ''IGFALS''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
The protein encoded by this gene is a serum protein that binds
insulin-like growth factor
The insulin-like growth factors (IGFs) are proteins with high sequence similarity to insulin. IGFs are part of a complex system that cells use to communicate with their physiologic environment. This complex system (often referred to as the IGF ...
s, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty
leucine-rich repeat
A leucine-rich repeat (LRR) is a protein structural motif that forms an α/β horseshoe tertiary structure, fold. It is composed of repeating 20–30 amino acid stretches that are unusually rich in the hydrophobic amino acid leucine. These Pr ...
s, is stimulated by growth hormone. Three transcript variants encoding two different isoforms have been found for this gene.
Clinical significance
Defects in this gene are a cause of
acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty.
Interactions
IGFALS has been shown to
interact with
IGFBP3
Insulin-like growth factor-binding protein 3, also known as IGFBP-3, is a protein that in humans is encoded by the ''IGFBP3'' gene. IGFBP-3 is one of six insulin-like growth factor-binding protein, IGF binding proteins (IGFBP1, IGFBP-1 to IGFBP6, ...
.
References
Further reading
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