Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

The proteins responsible for the exchange of Cl- with HCO3- are members of the SLC4 (1-3) and SLC26 (3, 4, 6, 7 and 9) transporter families. SLC4A1 (Band 3, AE1, anion exchanger 1) was the first bicarbonate transporter gene to be cloned and sequenced. It is ubiquitous throughout vertebrates and in humans, is the major glycoprotein present on erythrocytes and the basolateral surfaces of kidney cells. Variations in erythroid SLC4A1 determine the Diego blood group system. Mutations in the erythrocyte form of SLC4A1 can cause hereditary spherocytosis type 4 (HSP4; MIM:612653), a disorder leading to haemolytic anaemia (HA). Some mutations in SLC4A1 can cause distal (type1) renal tubular acidosis (dRTA; MIM:179800) (an inability to acidify urine) and dRTA-HA (dRTA with hemolytic anemia) (MIM:611590) (Tanner 2002, Romero et al. 2013).<br>

负责交换 Cl- 与 HCO3- 的蛋白质是 SLC4 (1-3) 和 SLC26 (3, 4, 6, 7 及 9) 运输家族的成员。SLC4A1（Band 3，AE1，阴离子交换体 1）是首个被克隆和测序的碳酸氢盐运输基因。该基因在脊椎动物中普遍存在，在人类中，它是红细胞和肾脏细胞基底外侧表面主要的糖蛋白。红细胞中 SLC4A1 的变异决定了 Diego 血型系统。SLC4A1 红细胞形式的突变可导致遗传性球形细胞增多症 4 型（HSP4；MIM:612653），这是一种导致溶血性贫血（HA）的疾病。SLC4A1 的一些突变可引起远端（1 型）肾小管酸中毒（dRTA；MIM:179800）（尿液酸化能力缺失）和 dRTA-HA（肾小管酸中毒伴溶血性贫血）（MIM:611590）（Tanner 2002，Romero 等人 2013）。