Description
Product Characteristics: WDR35 Antibody: WD40 repeats are a common structural module in eukaryotic proteins, and proteins containing WD40 domains have a wide range of functions, including signal transduction, cell cycle regulation, RNA splicing, and transcription. One such protein, WDR35, also known as CED2, has been shown to be mutated in patients with Sensenbrenner syndrome/cranioectodermal dysplasia (CED), an autosomal-recessive disease that is characterized by craniosynstosis and ectodermal and skeletal abnormalities. WDR35 localizes to cilia and dentrosomes during embryogenesis and human and mouse fibroblasts that lack this gene fail to produce cilia. Mutations in this gene can also cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Target Information: 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]