Species Human Entrez 11152 | Human Mouse Ensembl ENSG00000196998 | |
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Aliases WDR45, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4, JM5, WD repeat domain 45 External IDs MGI: 1859606 HomoloGene: 48498 GeneCards: WDR45 | ||
WD repeat domain phosphoinositide-interacting protein 4 (WIPI-4) is a protein that in humans is encoded by the WDR45 gene. Mutations in this gene cause NBIA.
Contents
Function
WIPI-4 is 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. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined.
Role in Disease
De novo loss of function mutations in WDR45 were identified by exome sequencing in 20 patients with Neurodegeneration with brain iron accumulation (NBIA).