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WDR81 encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain.
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