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Antibody detects endogenous levels of total HEATR2.
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: dynein assembly factor 5, axonemal; Dynein axonemal assembly factor 5; HEAT repeat containing 2; HEAT repeat-containing protein 2; unnamed protein product
基因别名: CILD18; DNAAF5; HEATR2
UniProt ID: (Human) Q86Y56
Entrez Gene ID: (Human) 54919, (Rat) 304332