蛋白质/抗原/多肽 >> 重组蛋白
重组卷曲螺旋结构域蛋白39
产品介绍 基因名: Ccdc39 产品别名: 4921507O14Rik; AI447426; AI844750; D3Ertd789e; b2b1304Clo; b2b1735Clo; b2b2025.1Clo; prh; Ccdc39; coiled-coil domain containing 39; coiled-coil domain containing 39; coiled-coil domain-containing protein 39; 卷曲螺旋结构域蛋白39; 背景信息: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Tissue specificity:Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis. Involvement in disease: Defects in CCDC39 are the cause of primary ciliary dyskinesia type 14 (CILD14) . A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. 标签:His-tag |
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