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IGFALS

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Protein-coding gene in the species Homo sapiens

IGFALS
Identifiers
AliasesIGFALS, ALS, ACLSD, insulin like growth factor binding protein acid labile subunit
External IDsOMIM: 601489; MGI: 107973; HomoloGene: 37987; GeneCards: IGFALS; OMA:IGFALS - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)
Chromosome 16 (human)Genomic location for IGFALSGenomic location for IGFALS
Band16p13.3Start1,790,413 bp
End1,794,971 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for IGFALSGenomic location for IGFALS
Band17 A3.3|17 12.53 cMStart25,084,971 bp
End25,100,984 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • parotid gland

  • inferior olivary nucleus

  • dorsal motor nucleus of vagus nerve

  • Skeletal muscle tissue of biceps brachii

  • cardia

  • body of stomach

  • fundus

  • pericardium

  • middle temporal gyrus
Top expressed in
  • lactiferous gland

  • left lobe of liver

  • right kidney

  • islet of Langerhans

  • yolk sac

  • proximal tubule

  • white adipose tissue

  • embryo

  • embryo

  • subcutaneous adipose tissue
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3483

16005

Ensembl

ENSG00000099769

ENSMUSG00000046070

UniProt

P35858

P70389

RefSeq (mRNA)

NM_001146006
NM_004970

NM_008340
NM_001364895
NM_001364896

RefSeq (protein)

NP_001139478
NP_004961

NP_032366
NP_001351824
NP_001351825

Location (UCSC)Chr 16: 1.79 – 1.79 MbChr 17: 25.08 – 25.1 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene.

Function

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. Three transcript variants encoding two different isoforms have been found for this gene.

Clinical significance

Defects in this gene are a cause of acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty.

Interactions

IGFALS has been shown to interact with IGFBP3.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000099769Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000046070Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: IGFALS insulin-like growth factor binding protein, acid labile subunit".
  6. Bocchini, Carol A. (25 August 2014). "ACID-LABILE SUBUNIT DEFICIENCY; ACLSD". OMIM - An Online Catalog of Human Genes and Genetic Disorders. Retrieved 21 February 2024.
  7. Twigg SM, Baxter RC (March 1998). "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit". J. Biol. Chem. 273 (11): 6074–9. doi:10.1074/jbc.273.11.6074. PMID 9497324.
  8. Firth SM, Ganeshprasad U, Baxter RC (January 1998). "Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3". J. Biol. Chem. 273 (5): 2631–8. doi:10.1074/jbc.273.5.2631. PMID 9446566.

Further reading


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