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2024年12月24日 · BSND (Barttin CLCNK Type Accessory Subunit Beta) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A, Neonatal, With …

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome. [5] This gene encodes an essential …

Predicted to act upstream of or within cellular ion homeostasis. Located in basolateral plasma membrane. Is integral component of plasma membrane. Part of protein-containing complex. Is …

2009年10月15日 · The BSND gene encodes barttin, an essential beta subunit for the chloride channels CLCNKA and CLCNKB . Heteromers formed by the chloride channels and barttin are …

bsnd的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为该基因编码clc氯离子通道的重要β亚基。 这些异通道定位于肾小管基底膜和内耳钾分泌上皮。

2001年10月22日 · A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is associated with sensorineural deafness (SND) and renal failure, has been …

The BSND gene provides instructions for making a protein called barttin. This protein is found primarily in the kidneys, where it attaches (binds) to two specific chloride channels: ClC-Ka …

该基因编码 CLC 氯离子通道必需的 β 亚基。 这些异聚通道定位于肾小管的基底外侧膜和内耳的钾分泌上皮细胞。 该基因的突变与伴有感音神经性耳聋的 Bartter 综合征有关。 [RefSeq 提 …

BSND protein, which is involved in chloride transport, is expressed in normal kidney and the inner ear and is known as an immunohistochemical marker for chromophobe renal cell carcinoma …