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Article

Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2008

Monico Carla G, Weinstein Adam, Jiang Zhirong, Rohlinger Audrey L, Cogal Andrea G, Bjornson Beth B, Olson Julie B, Bergstralh Eric J, Milliner Dawn S, Aronson Peter S

Abstract excerpt

BACKGROUND: Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in 2 separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 (PH1) and 2 (PH2), respectively. Studies of null Slc26a6(-/-) mice have shown a phenotype of hyperoxaluria, hyperoxalemia, and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may...

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Identifiers

PMID: 18951670
DOI: 10.1053/j.ajkd.2008.07.041
PMCID: PMC2710965

Genes

AGXT
GRHPR

Variants

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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