rs767507229
This variant is located in the IGFALS gene.
▶ClinVar annotation
About IGFALS
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]
View all IGFALS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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