Molecular mechanisms of autosomal dominant and recessive …
网页2005年11月16日 · SLC4A1 located on chromosome 17q21-q22 encodes both erythroid (eAE1, band 3) and kidney (kAE1) isoforms of AE1 protein. Thus, SLC4A1 mutations shows pleiotrophic effects resulting in two distinct and seemingly unrelated disorders, red cell abnormalities (e.g., hereditary spherocytosis and ovalocytosis) and dRTA.
Mutations and clinical characteristics of dRTA caused by SLC4A1 ...
网页2023年1月26日 · In this work, we summarized the mutation spectrum and clinical characteristics in patients with SLC4A1 mutations. SLC4A1 is located on chromosome 17 and encodes anion exchanger 1 protein in erythrocyte cell membranes and α-intercalated cells of the kidney .
Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1)
网页2017年4月7日 · Biochemical studies suggested an interaction of erythroid AE1 with stomatin. Moreover, we previously reported normal AE1 expression level in stomatin-deficient RBCs. Here, the ability of stomatin...
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1 ...
网页2018年8月17日 · The human SLC4A1 gene encodes erythroid anion exchanger (eAE1) and kidney anion exchanger 1 (kAE1) in erythrocytes and α-intercalated cells of the kidney, respectively. 9 Therefore, SLC4A1 mutations can cause 2 distinct disorders, namely, morphologic changes in red blood cells and dRTA, attributable to defective expression of eAE1 and kAE1 in ...
Single-cell transcriptomic analysis identifies an immune-prone ...
网页2022年6月27日 · Here, integrated, single-cell transcriptomic studies of erythroid cells from the human yolk sac, fetal liver, preterm umbilical cord blood (UCB), term UCB and adult bone marrow (BM) identified ...
Identification of new mutations in patients with hereditary ...
网页2020年1月24日 · Whole-exome sequencing (WES) has identified 3 patients with SLC4A1, 16 patients with ANK1, and 16 patients with SPTB mutations, including 5 splicing, 12 …
Molecular physiology of SLC4 anion exchangers - PubMed
网页Members of both the SLC4 and SLC26 mammalian gene families encode Na+-independent Cl- -HCO3- exchangers. Human SLC4A1/AE1 mutations cause either the erythroid disorders spherocytic haemolytic anaemia or ovalocytosis, or distal renal tubular acidosis. SLC4A2/AE2 knockout mice die at weaning.
Structural Model of the Anion Exchanger 1 (SLC4A1) and …
网页The anion exchanger 1 (AE1, 2 SLC4A1, or band 3) is the main membrane protein in vertebrate red cells. It fulfills different tasks in these cells: a structural role by linking plasma membrane to cytoskeleton, a respiratory role by improving CO 2 transport capacity of red cells, and an antigenic function (Diego blood group and senescence), and ...
American Journal of Hematology - Wiley Online Library
网页2010年7月23日 · The presence of Band 3-deficient ovalocytic hemolytic anemia together with evidence of distal renal tubular acidosis suggested possible mutation of the SLC4A1 gene encoding erythroid and kidney isoforms of Band 3/AE1/SLC4A1. The entire coding region and all splice junctions and flanking sequences of the AE1 gene were sequenced.
Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1)
网页2017年4月7日 · Anion Exchanger 1 (AE1) and stomatin are integral proteins of the red blood cell (RBC) membrane. Erythroid and kidney AE1 play a major role in HCO 3- and Cl - exchange. Stomatins down-regulate the activity of many channels and transporters. Biochemical studies suggested an interaction of erythroid AE1 with stomatin.
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