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Article

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes.

Diabetes - 1 Mar 2007

Tan Karen, Kimber Wendy A, Luan Jian'an, Soos Maria A, Semple Robert K, Wareham Nicholas J, O'Rahilly Stephen, Barroso Inês

Abstract excerpt

We previously reported a family in which a heterozygous missense mutation in Akt2 led to a dominantly inherited syndrome of insulin-resistant diabetes and partial lipodystrophy. To determine whether genetic variation in AKT2 plays a broader role in human metabolic disease, we sequenced the entire coding region and splice junctions of AKT2 in 94 unrelated patients with severe insulin resistance, 35 of whom had...

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Source

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Identifiers

PMID: 17327441
DOI: 10.2337/db06-0921
PMCID: PMC2672155

Genes

AKT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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