功能： disease:Defects in KTU are the cause of primary ciliary dyskinesia type 10 (CILD10) [MIM:612518]. 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:Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.,similarity:Belongs to the PIH1 family. Kintoun subfamily.,subcellular location:Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.,subunit:Interacts with DNAI2 and HSPA1A.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Dynein axonemal particle . Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. .
功能： disease:Defects in KTU are the cause of primary ciliary dyskinesia type 10 (CILD10) [MIM:612518]. 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:Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.,similarity:Belongs to the PIH1 family. Kintoun subfamily.,subcellular location:Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia.,subunit:Interacts with DNAI2 and HSPA1A.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Dynein axonemal particle . Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. .
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