RTTN, Official Symbol RTTNprovided by HGNC Official Full Name rotatinprovided by HGNC Primary source HGNC:HGNC:18654 See related Ensembl:ENSG00000176225 MIM:610436; AllianceGenome:HGNC:18654 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSSP Summary 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] Expression Ubiquitous expression in testis (RPKM 2.7), ovary (RPKM 1.5) and 25 other tissues See more Orthologs mouse all