EPG5 gene

ectopic P-granules autophagy protein 5 homolog

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

From NCBI Gene:

This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

From UniProt:

Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo.

From NCBI Gene:

  • Absent corpus callosum cataract immunodeficiency

From UniProt:

Vici syndrome (VICIS): A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. [MIM:242840]

Cytogenetic Location: 18q12.3, which is the long (q) arm of chromosome 18 at position 12.3

Molecular Location: base pairs 45,800,590 to 45,967,339 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.3, which is the long (q) arm of chromosome 18 at position 12.3
  • HEEW1
  • KIAA1632
  • VICIS