five

Tctn

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DataCite Commons2021-09-24 更新2025-04-15 收录
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https://www.facebase.org/chaise/record/#1/isa:dataset/RID=3-JVE2
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This unpublished dataset is based on two genes: (1) [Tctn2](https://www.alliancegenome.org/gene/MGI:1915228), which is: Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Located in ciliary transition zone. Part of MKS complex. Is expressed in several structures, including central nervous system; retina; and turbinate bone primordium. Human ortholog(s) of this gene implicated in Joubert syndrome 24 and Meckel syndrome 8. Orthologous to human TCTN2. (2) [Tmem231](https://www.alliancegenome.org/gene/MGI:2685024), which: Acts upstream of or within several processes, including embryonic digit morphogenesis; neuroepithelial cell differentiation; and smoothened signaling pathway. Located in ciliary membrane and ciliary transition zone. Part of MKS complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. Orthologous to human TMEM231. The Tctn data are closely related to the other ciliopathy datasets in MusMorph, including B9d, Ift, and Mks.
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FaceBase (www.facebase.org)
创建时间:
2021-09-24
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