WS2B
{{Short description|Putative gene}}
{{protein
|name=Waardenburg syndrome, type 2B
|caption=
|image=
|width=
|HGNCid=12794
|Symbol=WS2B
|AltSymbols=
|EntrezGene=7488
|OMIM=600193
|RefSeq=
|UniProt=
|PDB=
|ECnumber=
|Chromosome=1
|Arm=p
|Band=21
|LocusSupplementaryData=-1p13.3
}}
WS2B is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 1p21–1p13.3 since it was first reported in 1994.{{Cite web|url=https://www.omim.org/entry/600193|title=OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B|website=www.omim.org|access-date=2019-12-23}}
History
This locus was first linked to Waardenburg syndrome in 1994, when the study that first identified mutations in MITF in patients with Waardenburg syndrome type 2 also found that some patients did not have any mutations in this region.{{cite journal | vauthors = Hughes AE, Newton VE, Liu XZ, Read AP | title = A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1 | journal = Nature Genetics | volume = 7 | issue = 4 | pages = 509–12 | date = August 1994 | pmid = 7951321 | doi = 10.1038/ng0894-509 | s2cid = 2913481 }} A second 1994 study found a link to chromosome 1 in the locus 1p21–p13.3. This became known as type 2B of the condition, however it has not been documented since, and the gene responsible remains unknown.{{cite journal| vauthors = Lalwani AK, San Agustin TB, Wilcox ER |date=1994-09-01|title=A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1|journal=American Journal of Human Genetics|language=English|volume=55|issue=Suppl.3|osti=133315}}
References
{{Reflist}}
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