This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]
Function:
Involved in autophagy. May play a role in the degradation step of the autophagy pathway.
DISEASE:
Vici syndrome (VICIS) [MIM:242168]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957).
Similarity:
Belongs to the EPG5 family.
SWISS:
Q9HCE0
Gene ID:
57724
Database links:
Entrez Gene: 57724 Human
SwissProt: Q9HCE0 Human
Unigene: 514843 Human
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