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Article

A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.

Journal of molecular endocrinology - 1 Dec 2012

David Alessia, Kelley Lawrence A, Sternberg Michael J E

Abstract excerpt

The acid-labile subunit (ALS) is the main regulator of IGF1 and IGF2 bioavailability. ALS deficiency caused by mutations in the ALS (IGFALS) gene often results in mild short stature in adulthood. Little is known about the ALS structure-function relationship. A structural model built in 1999 suggested a doughnut shape, which has never been observed in the leucine-rich repeat (LRR) superfamily, to which ALS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22991227
DOI: 10.1530/JME-12-0086

Genes

IGF1
IGF2
IGFALS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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