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WDR45 encodes a member of the WD repeat protein family. Additionally we are shipping WDR45 Proteins (3) and many more products for this protein.
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Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype.
Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy.
WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration.
Genetic analysis for WDR45 revealed that she had a splice site mutation
C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood.
An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration.
Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes.
Mutations in WDR45 are associated with brain iron accumulation and X-linked disorders of neurodegeneration.
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
we have identified mutations in WDR45 as a cause of a distinctive X-linked dominant form of neurodegeneration with brain iron accumulation (NBIA)
Nes (show NES Antibodies)-Wdr45(fl/Y) mice recapitulate some hallmarks of beta-propeller protein-associated neurodegeneration, including cognitive impairment and defective axonal homeostasis
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. 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.
WD repeat domain phosphoinositide-interacting protein 4
, WD repeat-containing protein 45
, WD repeat domain, X-linked 1
, WD45 repeat protein interacting with phosphoinositides 4
, neurodegeneration with brain iron accumulation 4
, neurodegeneration with brain iron accumulation 5
, WD repeat domain X-linked 1