IGFALS Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | IGFALS |
| Official Name | insulin like growth factor binding protein acid labile subunit [Source:HGNC Symbol;Acc:HGNC:5468] |
| Ensembl ID | ENSG00000099769 |
| Bio databases IDs | |
| Aliases | insulin like growth factor binding protein acid labile subunit |
| Synonyms | ACLSD, Albs, ALS, insulin like growth factor binding protein acid labile subunit, insulin-like growth factor binding protein, acid labile subunit, Insulin-like growth factor binding protein complex, acid labile subunit |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IGFALS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein phosphatase 1 regulatory subunit 42
- insulin-like growth factor binding
- Leucine rich repeat
- Leucine rich repeat C-terminal domain
- protein binding
- Leucine rich repeat N-terminal domain
Pathways
Biological processes and signaling networks where the IGFALS gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- acid-labile subunit deficiency
- hepatocellular carcinoma
- weight gain
- aortic valve calcification
- breast cancer
- Huntington disease
- spinal muscular atrophy
- hepatitis B virus-related hepatocellular carcinoma
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IGFALS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- extracellular matrix
- extracellular region
- insulin-like growth factor ternary complex
Molecular Function
What the gene product does at the molecular level
- insulin-like growth factor binding