Rockville, MD/Seattle, WA ?May 11, 2010 ?OriGene and the Institute for Systems Biology (ISB), announce plans to create a proteotypic PeptideAtlas and develop an SRM/MRM mass spectrometry standard database for 5,000 human proteins (Press Release)
Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012].
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