Aliases for DYNC2I1 Gene
External Ids for DYNC2I1 Gene
Previous HGNC Symbols for DYNC2I1 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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
GeneCards Summary for DYNC2I1 Gene
DYNC2I1 (Dynein 2 Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2I1 include Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is DNAI4.
UniProtKB/Swiss-Prot Summary for DYNC2I1 Gene
May play a role in ciliogenesis.