| Structural highlights
Disease
TEN4_HUMAN NON RARE IN EUROPE: Hereditary essential tremor. The disease is caused by variants affecting the gene represented in this entry.
Function
TEN4_HUMAN Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity).[UniProtKB:Q3UHK6][1]
References
- ↑ Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jimenez-Jimenez FJ, Gironell A, Clarimon J, Drechsel O, Agundez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleo A, Coria F, Garcia-Martin E, Alonso-Navarro H, Marti MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul, 17. PMID:26188006 doi:http://dx.doi.org/10.1093/hmg/ddv281
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