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Article

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

Human molecular genetics - 15 Jan 2005

Yang Zhenglin, Alvarez Bernardo V, Chakarova Christina, Jiang Li, Karan Goutam, Frederick Jeanne M, Zhao Yu, Sauvé Yves, Li Xi, Zrenner Eberhart, Wissinger Bernd, Hollander Anneke I Den, Katz Bradley, Baehr Wolfgang, Cremers Frans P, Casey Joseph R, Bhattacharya Shomi S, Zhang Kang

Abstract excerpt

Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal of acid load from retina and RPE is a critical function mediated by the choriocapillaris. However, the mechanism by which pH homeostasis is maintained is largely unknown. Here, we show that a functional complex of carbonic anhydrase 4 (CA4) and Na+/bicarbonate co-transporter 1 (NBC1) is...

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PMID: 15563508
DOI: 10.1093/hmg/ddi023

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RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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