UniProt Protein Function: | RTTN: Involved in the genetic cascade that governs left-right specification. Required for correct asymmetric expression of NODAL, LEFTY and PITX2. 4 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 18q22.2Cellular Component: centrosome; cytoplasmBiological Process: determination of left/right symmetryDisease: Polymicrogyria With Seizures |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q86VV8 |
NCBI GenInfo Identifier: | 972781967 |
NCBI Gene ID: | 25914 |
NCBI Accession: | NP_001305449.1 |
UniProt Secondary Accession: | Q86VV8,Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q8N8N8, Q8TBQ4 Q96IN9, Q9UFJ4 |
UniProt Related Accession: | Q86VV8 |
Molecular Weight: | 98,936 Da |
NCBI Full Name: | rotatin isoform 2 |
NCBI Synonym Full Names: | rotatin |
NCBI Official Symbol: | RTTNÂ Â |
NCBI Official Synonym Symbols: | MSSPÂ Â |
NCBI Protein Information: | rotatin |
UniProt Protein Name: | Rotatin |
UniProt Synonym Protein Names: | |
Protein Family: | Rotatin |
UniProt Gene Name: | RTTNÂ Â |
UniProt Entry Name: | |