Structural highlights
Disease
RCC1L_HUMAN Williams syndrome. WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.[1]
Function
RCC1L_HUMAN
References
- ↑ Merla G, Ucla C, Guipponi M, Reymond A. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002 May;110(5):429-38. Epub 2002 Mar 28. PMID:12073013 doi:http://dx.doi.org/10.1007/s00439-002-0710-x