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Involved in autophagy. Additionally we are shipping and many more products for this protein.
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We report two sisters with a nonsense mutation within exon 14 of the EPG5 gene and a phenotype consistent with Vici syndrome
This article confirms in silico predictions of aberrant splicing in the EPG5 gene due to the mutation NM_020964.2; c.1007A>G p.Gln336Arg
A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis.
Epg5-deficient mice as a model for investigating the pathogenesis of ALS and indicates that dysfunction of the autophagic-endolysosomal system causes selective damage of neurons associated with neurodegenerative diseases.
Involved in autophagy. May play a role in the degradation step of the autophagy pathway (By similarity).
ectopic P granules protein 5 homolog