DCAF8

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene.

Full Name

DDB1 And CUL4 Associated Factor 8

Function

May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Biological Process

Post-translational protein modification Source: Reactome
Protein ubiquitination Source: UniProtKB-UniPathway

Cellular Location

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.

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.