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Article

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.

Human molecular genetics - 15 Nov 2013

Vilas Gonzalo L, Loganathan Sampath K, Liu Jun, Riau Andri K, Young James D, Mehta Jodhbir S, Vithana Eranga N, Casey Joseph R

Abstract excerpt

Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. Selective transmembrane water conductance controls cell size, renal fluid reabsorption and cell division. All known water-channelling proteins belong...

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Source

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Identifiers

PMID: 23813972
DOI: 10.1093/hmg/ddt307
PMCID: PMC3889808

Genes

AQP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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