SLC4A11

(redirected from NaBC1)

SLC4A11

A gene on chromosome 20p12 that encodes a voltage-regulated, sodium-coupled borate cotransporter, which is essential for borate homeostasis, cell growth and cell proliferation.

Molecular pathology
SLC4A11 mutations have been linked to endothelial corneal dystrophies (e.g., autosomal recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness) and Fuchs endothelial corneal dystrophy.
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Bu dagilimin onceki yillarda sadece pasif difuzyon ile oldugu dusunulmekte iken, 2004 yilinda, sodyum bagimli borat tasiyici 1 (sodium coupled borate co-transporter 1, NABC1) izole edilmesinden sonra bu dusunce degismis ve borun hucreye alinmasinda hem pasif difuzyonun hem de NABC1'in etkili olacagi dusunulmeye baslanmistir (24, 25).