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WDR81 encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain.
suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation
The WDR81 interacts with LC3C through canonical LC3-interacting regions in the BEACH domain, promoting LC3C recruitment to ubiquitinated proteins.
The results of this study suggest that the WDR81 might have a role in mitosis that is conserved between Drosophila and humans.
Recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus (show FOXC1 ELISA Kits).
WDR81 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss.
The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients.
This study provided evidence that the nur5 mutant mouse strain, which displays tremor and an abnormal gait, as well as Purkinje cell degeneration (show AGTPBP1 ELISA Kits) and photoreceptor cell loss
This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
WD repeat-containing protein 81