Harindarpal S Gill, Lauren Dutcher, Walter F Boron, Samir Patel, Lisa M Guay-Woodford
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引用次数: 0
Abstract
NBCe1-A membrane-embedded macromolecules that cotransport sodium and bicarbonate ions across the bilayer serve to maintain acid-base homeostasis throughout the body. Defects result in a number of renal and eye disorders, including type-II renal tubular acidosis and cataracts. Here, crystals of a human truncated mutant of the cytoplasmic N-terminal domain of NBCe1 (Δ1-62NtNBCe1-A) are reported that diffract X-rays to 2.4 Å resolution. The crystal symmetry of Δ1-62NtNBCe1-A is of space group P31 with pseudo-P3121 symmetry and it has a hemihedral twin fraction of 33.0%. The crystals may provide insight into the pathogenic processes observed in a subset of patients with truncating and point mutations in the gene encoding NBCe1.
NBCe1-A是一种膜嵌入式大分子，可通过双分子层共同转运钠离子和碳酸氢根离子，维持全身酸碱平衡。其缺陷会导致多种肾病和眼病，包括 II 型肾小管性酸中毒和白内障。本文报告了 NBCe1 细胞质 N 端结构域的人类截短突变体（Δ1-62NtNBCe1-A）的晶体，其 X 射线衍射分辨率达到 2.4 Å。Δ1-62NtNBCe1-A的晶体对称性为空间群P31，假对称性为P3121，其半面体孪晶率为33.0%。该晶体可能有助于深入了解在编码 NBCe1 的基因发生截断突变和点突变的亚组患者中观察到的致病过程。
期刊介绍：
Acta Crystallographica Section F is a rapid structural biology communications journal.
Articles on any aspect of structural biology, including structures determined using high-throughput methods or from iterative studies such as those used in the pharmaceutical industry, are welcomed by the journal.
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