WS2C
WS2C is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 8p23 since it was first reported in 2001.[1]
| Waardenburg syndrome, type 2C | |
|---|---|
| Identifiers | |
| Symbol | WS2C |
| NCBI gene | 170594 |
| OMIM | 606662 |
| Other data | |
| Locus | Chr. 8 p23 |
History
This locus was first linked to Waardenburg syndrome in 2001, when a study of an Italian family with Waardenburg syndrome type 2 features found that they were due to an unknown gene on chromosome 8 at locus 8q23 which had been broken by a chromosomal translocation. The study established a provisional name for the gene, WS2C. However, mutations in this region in Waardenburg syndrome patients have not been found since.[1][2]
gollark: I am the one true herald of Macron, actually?
gollark: Since x86 assembly is the logic.
gollark: No, it's x86 assembly to NAND gates.
gollark: The category of Macrons is equivalent to the homotopy category of the category with weak equivalences PSh(C)PSh(C) with the weak equivalences given by W=W = local isomorphisms. The converse is also true: for every left exact functor L:PSh(S)→PSh(S)L : PSh(S) \to PSh(S) (preserving finite limits) which is left adjoint to the inclusion of its image, there is a Grothendieck topology on SS such that the image of LL is the category of Macrons on SS with respect to that topology.
gollark: What if Macron literally LLVM backend?
References
- "OMIM Entry - % 606662 - WAARDENBURG SYNDROME, TYPE 2C; WS2C". omim.org. Retrieved 2019-12-07.
- Selicorni A, Guerneri S, Ratti A, Pizzuti A (January 2002). "Cytogenetic mapping of a novel locus for type II Waardenburg syndrome". Human Genetics. 110 (1): 64–7. doi:10.1007/s00439-001-0643-9. PMID 11810298.
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