TCTN3
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| TCTN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TCTN3, C10orf61, JBTS18, OFD4, TECT3, tectonic family member 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613847 MGI: 1914840 HomoloGene: 9221 GeneCards: TCTN3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Tectonic family member 3 is a protein in humans that is encoded by the TCTN3 gene. [5]
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Oral-facial-digital syndrome IV and Joubert syndrome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000119977 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025008 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Tectonic family member 3". Retrieved 2012-12-22.
Further reading
 | This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it. |