WDR45

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 WDR45 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 progressive neurodegeneration and evidence of iron on brain MRI scans. The mutations cause an X-linked dominant form of brain iron accumulation disorder now called Beta-propeller protein-associated neurodegeneration (BPAN). Diagnosis is usually established by genetic testing. There are no current treatments for BPAN, though medications and therapies can be used to treat symptoms. == See also ==