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Immunogen sequence: NLQWHAGRT AAAIRTAAVS CLWALTSSEV LSAEQIRDVQ ETLMPQVLTT LEEDSKMTRL ISCRIINTFL KTSGGMTDPE KLIRIYPELL KRLDDVSNDV RMAAASTLVT WLQCVKGANA KSYYQSSVQY LYRELLVHLD DPERAIQDAI (661-809 aa encoded by BC047240)
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 (axonemal) assembly factor 5; Dynein axonemal assembly factor 5; dynein, axonemal, assembly factor 5; HEAT repeat containing 2; HEAT repeat-containing protein 2
基因别名: CILD18; DNAAF5; HEATR2
UniProt ID: (Human) Q86Y56
Entrez Gene ID: (Human) 54919, (Rat) 304332
分子生物学功能:
chaperone