insulin like growth factor binding protein acid labile subunit
Synonyms
ACLSD
ALS
Biotype
protein coding gene
Automated Description
Predicted to enable insulin-like growth factor binding activity. Predicted to be involved in signal transduction. Located in extracellular exosome. Part of insulin-like growth factor ternary complex. Biomarker of Noonan syndrome; anorexia nervosa; congenital disorder of glycosylation Ia; isolated growth hormone deficiency; and nephrotic syndrome.
RGD Description
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]