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Article

Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.

BMC medicine - 15 Nov 2012

Al-Daghri Nasser M, Cagliani Rachele, Forni Diego, Alokail Majed S, Pozzoli Uberto, Alkharfy Khalid M, Sabico Shaun, Clerici Mario, Sironi Manuela

Abstract excerpt

BACKGROUND: The NPC1 gene encodes a protein involved in intracellular lipid trafficking; its second endosomal loop (loop 2) is a receptor for filoviruses. A polymorphism (His215Arg) in NPC1 was associated with obesity in Europeans. Adaptations to diet and pathogens represented powerful selective forces; thus, we analyzed the evolutionary history of the gene and exploited this information for the identification of...

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Share to Diabetes Mellitus, Type 2
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Glycoproteins

Share to Niemann-Pick C1 Protein

Share to Obesity

Share to Receptors, Virus

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Source

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Identifiers

PMID: 23153210
DOI: 10.1186/1741-7015-10-140
PMCID: PMC3520752

Genes

NPC1
REL

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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