Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations.

doi:10.1002/humu.1146

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Article

Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations.

Human mutation - 1 Jan 2001

Killian J K, Oka Y, Jang H S, Fu X, Waterland R A, Sohda T, Sakaguchi S, Jirtle R L

Abstract excerpt

M6P/IGF2R encodes a multifunctional protein involved in lysosomal enzyme trafficking, fetal organogenesis, tumor suppression, and cytotoxic T cell-induced apoptosis. M6P/IGF2R is imprinted and expressed only from the maternally inherited allele in marsupials and rodents. In contrast, humans were initially reported to differ from the imprinted mammalian orders by not having an imprinted M6P/IGF2R; however, some...

Topics

Alleles
Artifacts
Exons
Gene Frequency
Genetic Variation
Humans
Introns
Japan
Molecular Sequence Data
Mutation
Polymorphism, Single Nucleotide
Racial Groups
Receptor, IGF Type 2
United States

Source

Open in PubMed

Identifiers

PMID: 11438990
DOI: 10.1002/humu.1146

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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