Structural highlights
Disease
[HYCCI_HUMAN] Hypomyelination - congenital cataract. The disease is caused by mutations affecting the gene represented in this entry.
Function
[HYCCI_HUMAN] May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination of the central and peripheral nervous system.[1]
References
- ↑ Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3. PMID:16951682 doi:http://dx.doi.org/10.1038/ng1870
