RecName: Full=Ectopic P granules protein 5 homolog

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View conserved domains detected in this protein sequence using CD-search.

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. [Eur J Paediatr Neurol. 2022]
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.
Vansenne F, Fock JM, Stolte-Dijkstra I, Meiners LC, van den Boogaard MH, Jaeger B, Boven L, Vos YJ, Sinke RJ, Verbeek DS. Eur J Paediatr Neurol. 2022 Nov; 41:91-98. Epub 2022 Nov 12.
EPG5-Related Disorder. [GeneReviews(®). 1993]
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H. GeneReviews(®). 1993-2024. 2022 Oct 13
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate. [Ophthalmic Genet. 2021]
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
Rafei MA, Harikrishna B, Al Thihli K, Al-Mujaini AS, Ganesh A. Ophthalmic Genet. 2021 Dec; 42(6):780-783. Epub 2021 Jul 15.

RefSeq genomic sequence
See the genomic reference sequence for the EPG5 gene (NG_042838.1).
RefSeq protein isoforms
See 39 reference sequence protein isoforms for the EPG5 gene.

Q9HCE0 [Domain Mapping of Disease Mut...]
Q9HCE0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome