Aliases for WDR34 Gene
External Ids for WDR34 Gene
Previous GeneCards Identifiers for WDR34 Gene
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. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
GeneCards Summary for WDR34 Gene
WDR34 (WD Repeat Domain 34) is a Protein Coding gene. Diseases associated with WDR34 include Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. An important paralog of this gene is WDR78.
UniProtKB/Swiss-Prot for WDR34 Gene
Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at Thr-184 and Thr-187 upon Il-1 beta stimulation.