Ectopic P-Granules Autophagy Protein 5, C. Elegans, Homolog of

Alternative Names

  • EPG5
  • KIAA1632
  • HEEW1

Associated Diseases

Vici Syndrome
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OMIM Number

615068

NCBI Gene ID

57724

Uniprot ID

Q9HCE0

Length

166,754 bases

No. of Exons

47

No. of isoforms

2

Protein Name

Ectopic P Granules Protein 5 Homolog

Molecular Mass

292481 Da

Amino Acid Count

2579

Genomic Location

chr18:45,800,585-45,967,338

Gene Map Locus
18q12.3-q21.1

Description

The EPG5 gene encodes a protein believed to play an essential role in the autophagy pathway.  Autophagy is a highly conserved lysosomal degradation pathway and is associated with cellular homeostasis, embryonic development, and muscle remodeling.  Any defects in this pathway can thus have pathological consequences.  This is further consolidated by animal studies; mice lacking EPG5 have been found to develop progressive neurologic symptoms with hind limb paralysis and eventual lethality.  

Mutations in this gene are associated with Vici syndrome, a multisystem disorder characterized by cardiomyopathy, corpus callosum agenesis, cataracts, oculocutaneous hypopigmentation, and immune dysfunction. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020964.3:c.1249C>TUnited Arab EmiratesNC_000018.10:g.45952403G>ALikely PathogenicPathogenicVici SyndromeNG_042838.1:g.19937C>T; NM_020964.3:c.1249C>T; NP_066015.2:p.Arg417Ter961245497626232
NM_020964.3:c.2355delEgyptchr18:45930733PathogenicVici SyndromeNG_042838.1:g.41607del; NM_020964.3:c.2355del; NP_066015.2:p.Arg786GlufsTer10
NM_020964.3:c.3447G>APalestinechr18:45916144PathogenicPathogenicVici SyndromeNG_042838.1:g.56196G>A; NM_020964.3:c.3447G>A; NP_066015.2:p.Trp1149Ter886276412812308
NM_020964.3:c.3693G>ASaudi Arabiachr18:45915511PathogenicVici SyndromeNG_042838.1:g.56829G>A; NM_020964.3:c.3693G>A; NP_066015.2:p.Gln1231= Mutation occurs at the last base of the exon and is expected to cause aberrant splicing of the EPG5 transcript
NM_020964.3:c.4751T>ASaudi Arabiachr18:45899462PathogenicPathogenicVici SyndromeNG_042838.1:g.72878T>A; NM_020964.3:c.4751T>A; NP_066015.2:p.Leu1584Ter1568133760626245
NM_020964.3:c.4783C>TUnited Arab EmiratesNC_000018.10:g.45899430G>ALikely PathogenicPathogenicVici SyndromeNG_042838.1:g.72910C>T; NM_020964.3:c.4783C>T; NP_066015.2:p.Gln1595Ter1568133724626246
NM_020964.3:c.5993C>GPalestinechr18:45876292PathogenicPathogenicVici SyndromeNG_042838.1:g.96048C>G; NM_020964.3:c.5993C>G; NP_066015.2:p.Ser1998Ter1568112516626231
NM_020964.3:c.6084G>AOmanchr18:45870708PathogenicPathogenicVici SyndromeNG_042838.1:g.101632G>A; NM_020964.3:c.6084G>A; NP_066015.2:p.Trp2028Ter1568107449623301
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