Title : γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.

Pub. Date : 2017 Jul 17

PMID : 28646128






1 Functional Relationships(s)
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1 Mutations of the solute carrier family 4 member 1 (SLC4A1) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Bicarbonates solute carrier family 4 member 1 (Diego blood group) Homo sapiens