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Article

Structure and function of the NPC2 protein.

Biochimica et biophysica acta - 11 Oct 2004

Vanier Marie T, Millat Gilles

Abstract excerpt

Somatic cell hydridization and linkage studies indicated the implication of a second gene as a cause of Niemann-Pick C disease in a minority (5%) of patients. A study of the lysosomal proteome led to the identification of a previously known gene, HE1, as the NPC2 gene. The mature NPC2/HE1 protein...

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Source

Identifiers

PMID: 15465422
DOI: 10.1016/j.bbalip.2004.08.007

Genes

NPC2
NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15465422-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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