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]
Forensic Context
A study in humans analyzing leukocyte gene expression profiles from severe burn patients identified the DYNC2I1 as a top SIG (sustained increasing gene) with expression that increased from the healthy state through the late recovery phase (>400 hours post-injury), classifying it as a biomarker for burn recovery [Xu et al. DOI:10.1159/000493451].