功能： disease:Defects in DNAI1 are the cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).,disease:Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1) [MIM:244400]. CILD1 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.,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.,
功能： disease:Defects in DNAI1 are the cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).,disease:Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1) [MIM:244400]. CILD1 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.,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.,
在线咨询
湘公网安备