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Article

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

Journal of the American Society of Nephrology : JASN - 1 Aug 2005

Horita Shoko, Yamada Hideomi, Inatomi Jun, Moriyama Nobuo, Sekine Takashi, Igarashi Takashi, Endo Yoko, Dasouki Majed, Ekim Mesiha, Al-Gazali Lihadh, Shimadzu Mitsunobu, Seki George, Fujita Toshiro

Abstract excerpt

Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the relationship between the degree of NBC1 inactivation and the severity of pRTA. This study identified three new homozygous mutations (T485S, A799V, and R881C) in the common coding regions of NBC1. Functional analysis of these new as well as the...

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Share to Acidosis, Renal Tubular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Kidney Tubules, Proximal

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Source

Identifiers

PMID: 15930088
DOI: 10.1681/ASN.2004080667

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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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Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.PMID 15930088Read ↗

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