A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.

doi:10.1021/bi00108a024

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Article

A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.

Biochemistry - 5 Nov 1991

Maassen J A, Van der Vorm E R, Van der Zon G C, Klinkhamer M P, Krans H M, Möller W

Abstract excerpt

We have previously shown that a homozygous mutation encoding a substitution of proline for leucine at position 233 in the insulin receptor is linked with the syndrome of leprechaunism, being a lethal form of insulin resistance in newborn children. Specific binding of insulin and insulin-stimulated autophosphorylation of the insulin receptor are nearly absent in fibroblasts from the leprechaun patient. To examine...

Topics

Animals
Biological Transport
CHO Cells
Cell Line
Cell Membrane
Cricetinae
Gene Expression
Humans
Immunosorbent Techniques
Insulin
Insulin Resistance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kinetics

Leucine

Mutation

Phosphorylation

Proline

Protein Precursors

Receptor, Insulin

Source

Open in PubMed

Identifiers

PMID: 1931997
DOI: 10.1021/bi00108a024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1931997-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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