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Article

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Nature genetics - 1 Mar 2010

Qin Yuejuan, Yao Li, King Elizabeth E, Buddavarapu Kalyan, Lenci Romina E, Chocron E Sandra, Lechleiter James D, Sass Meghan, Aronin Neil, Schiavi Francesca, Boaretto Francesca, Opocher Giuseppe, Toledo Rodrigo A, Toledo Sergio P A, Stiles Charles, Aguiar Ricardo C T, Dahia Patricia L M

Abstract excerpt

Pheochromocytomas, which are catecholamine-secreting tumors of neural crest origin, are frequently hereditary. However, the molecular basis of the majority of these tumors is unknown. We identified the transmembrane-encoding gene TMEM127 on chromosome 2q11 as a new pheochromocytoma susceptibility...

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Identifiers

PMID: 20154675
DOI: 10.1038/ng.533
PMCID: PMC2998199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20154675-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.PMID 20154675Read ↗

Minireview: The Busy Road to Pheochromocytomas and Paragangliomas Has a New Member, TMEM127Semantic proximity Read ↗

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Functional characterization of germline variants in the <i>TMEM127</i> tumor suppressor reveals novel insights into its membrane topology and traffickingSemantic proximity Read ↗

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.Semantic proximity Read ↗

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