Insulin-like growth factor (IGF)-Bindungsprotein, säureinstabile Untereinheit
Das IGFALS-Gen kodiert ein Protein, welches vorwiegend in der Leber synthetisiert und in die Blutbahn sezerniert wird. Dort stabilisiert es IGFBP3/IGF-Komplexe und erhält damit die systemische IGF-Wirkung. Funktionsmindernde Mutationen sind für den autosomal rezessiven Transportproteinmangel verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ueki I et al. (2000) Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.
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2. |
Leong SR et al. (1992) Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex.
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3. |
Dai J et al. (1992) Molecular cloning of the acid-labile subunit of the rat insulin-like growth factor binding protein complex.
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4. |
Domené HM et al. (2004) Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
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5. |
Domené HM et al. (2007) Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
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6. |
Baxter RC et al. (1994) Purification and characterization of the acid-labile subunit of rat serum insulin-like growth factor binding protein complex.
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7. |
Boisclair YR et al. (1996) Organization and chromosomal localization of the gene encoding the mouse acid labile subunit of the insulin-like growth factor binding complex.
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8. |
OMIM.ORG article
Omim 601489
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9. |
Orphanet article
Orphanet ID 159982
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10. |
NCBI article
NCBI 3483
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Update: 14. August 2020