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RTTN encodes a large protein whose specific function is unknown.
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RTTN directly interacts with STIL (显示 STIL 抗体) and acts downstream of STIL (显示 STIL 抗体)-mediated centriole assembly, contributing to building full-length centrioles.
We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction.
RTTN mutations cause primary microcephaly and primordial dwarfism in humans.
RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals.
Study characterizing mouse rotatin gene.
cloning and characterization of rotatin
No turning (nt), a recessive lethal mutation causing left-right and axial patterning defects is likely elicited by deficiency of Rttn on chromosome 18.
This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development.