DCAF8 gene

DDB1 and CUL4 associated factor 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2009]

From UniProt:

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

From NCBI Gene:

  • Giant axonal neuropathy 2, autosomal dominant

From UniProt:

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. [MIM:610100]

Cytogenetic Location: 1q22-q23, which is the long (q) arm of chromosome 1 between positions 22 and 23

Molecular Location: base pairs 160,215,715 to 160,262,560 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q22-q23, which is the long (q) arm of chromosome 1 between positions 22 and 23
  • GAN2
  • H326
  • WDR42A