Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 20-11-2010

Symbol	RTA2
Location	4q13.3
Name	renal tubular acidosis, proximal, with ocular abnormalities
Other name(s)	renal tubular acidosis II
Corresponding gene	SLC4A4
Main clinical features	persistent proximal renal tubular acidosis associated with bilateral glaucoma (cataract, band keratinopathy) and short stature, mental retardation and associated with defects in the enamel of the permanent teeth
Genetic determination	autosomal recessive
Function/system disorder	eye
	kidney and urinary tract
Type	disease

Gene product

Name	solute carrier family 4, sodium bicarbonate cotransporter, member 4

Remark(s)

Genotype/Phenotype correlations

homozygous, missense mutation (S427L) also resulting in RTA2 and similar eye defects without mental retardation homozygous, missense SLC4A4 mutation (Leu522Pro), short stature, enamel hypoplasia, and bilateral ocular disease (cataract, glaucoma, and band keratopathy).