DCAF8
Function
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Involvement in disease
Giant axonal neuropathy 2, autosomal dominant
GAN2
An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the WD repeat DCAF8 family.
Cellular localization
- Nucleus
- Cytoplasm
- It shuttles between the nucleus and the cytoplasm. Nuclear import is mediated by KPNA1 and KPNB1 under the regulation of nuclear GTPase RAN. Nuclear export to the cytoplasm is XPO1 dependent.
Alternative names
H326, WDR42A, DCAF8, DDB1- and CUL4-associated factor 8, WD repeat-containing protein 42A