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IGFALS

From Wikipedia, the free encyclopedia

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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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[3][4]
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.[5]

Function

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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.[5]

Clinical significance

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Defects in this gene are a cause of acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty. [6]

Interactions

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IGFALS has been shown to interact with IGFBP3.[7][8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000099769Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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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