Gene Symbol | IGFALS |
Entrez Gene ID | 3483 |
Full Name | insulin like growth factor binding protein acid labile subunit |
Synonyms | ACLSD,ALS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Acid-labile subunit, deficiency of, 615961 (3) |