功能： disease:Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9) [MIM:612444]. CILD is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.,function:Part of the dynein complex of respiratory cilia.,sequence caution:Intron retention.,similarity:Belongs to the dynein intermediate chain family.,similarity:Contains 5 WD repeats.,subunit:Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with KTU.,tissue specificity:Highly expressed in trachea and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, cilium axoneme . Dynein axonemal particle . Located in the proximal region of respiratory cilia. .
组织表达： Highly expressed in trachea and testis. Expressed in respiratory ciliated cells (at protein level) (PubMed:33139725).
功能： disease:Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9) [MIM:612444]. CILD is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.,function:Part of the dynein complex of respiratory cilia.,sequence caution:Intron retention.,similarity:Belongs to the dynein intermediate chain family.,similarity:Contains 5 WD repeats.,subunit:Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with KTU.,tissue specificity:Highly expressed in trachea and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, cilium axoneme . Dynein axonemal particle . Located in the proximal region of respiratory cilia. .
组织表达： Highly expressed in trachea and testis. Expressed in respiratory ciliated cells (at protein level) (PubMed:33139725).
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