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Article

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Human molecular genetics - 15 Apr 2005

Ramser Juliane, Abidi Fatima E, Burckle Celine A, Lenski Claus, Toriello Helga, Wen Gaiping, Lubs Herbert A, Engert Stefanie, Stevenson Roger E, Meindl Alfons, Schwartz Charles E, Nguyen Genevieve

Abstract excerpt

The renin-angiotensin system (RAS) is essential for blood pressure control and water-electrolyte balance. Until the discovery of the renin receptor, renin was believed to be mainly a circulating enzyme with a unique function, the cleavage of angiotensinogen. We report a unique mutation in the renin receptor gene (ATP6AP2) present in patients with X-linked mental retardation and epilepsy (OMIM no. 300423), but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15746149
DOI: 10.1093/hmg/ddi094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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