External Ids for RTTN Gene
Previous GeneCards Identifiers for RTTN Gene
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. [provided by RefSeq, Jan 2013]
GeneCards Summary for RTTN Gene
RTTN (Rotatin) is a Protein Coding gene. Diseases associated with RTTN include Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures and Polymicrogyria. Gene Ontology (GO) annotations related to this gene include binding.
UniProtKB/Swiss-Prot Summary for RTTN Gene
Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2.