IGFALS
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene.[5]
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Aliases | IGFALS, ALS, ACLSD, insulin like growth factor binding protein acid labile subunit | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 601489; MGI: 107973; HomoloGene: 37987; GeneCards: IGFALS; OMA:IGFALS - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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. Three transcript variants encoding two different isoforms have been found for this gene.[5]
Clinical significance
Defects in this gene are a cause of acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty. [6]
Interactions
References
Further reading
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