tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 is an enzyme subunit that in humans is encoded by the WDR4gene. This protein is a non-enzyme subunit of the METTL1-WDR4 complex which acts as a methyltransferase that produces N7-methylguanine in RNAs like tRNAs, mRNAs and microRNAs. In this complex, WDR4 functions as a scaffold for binding with tRNA.
Structure/family
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.
Medical significance
Pathogenic mutations in WDR4 have been associated with defects in brain development. Two separate forms have been observed, designated Galloway-Mowat syndrome-6 (GAMOS6) and microcephaly, growth deficiency, seizures, and brain malformations (MIGSB). Both appear to follow an autosomal recessive inheritance pattern.
Michaud J, Kudoh J, Berry A, etal. (2001). "Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein". Genomics. 68 (1): 71–9. doi:10.1006/geno.2000.6258. PMID10950928.