Gene

IGFALS

Species
Homo sapiens
Symbol
IGFALS
Name
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45712
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
1.7905M1.7910M1.7915M1.7920M1.7925M1.7930M1.7935M1.7940M1.7945M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions