RecName: Full=3'-5' exoribonuclease 1; AltName: Full=3'-5' exonuclease - Protein

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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. [Am J Hum Genet. 2023]
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, et al. Am J Hum Genet. 2023 Jul 6; 110(7):1068-1085. Epub 2023 Jun 22.
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities. [Am J Med Genet A. 2023]
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.
Hoxha V, Aliu E. Am J Med Genet A. 2023 Jan; 191(1):64-69. Epub 2022 Oct 8.
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation. [Am J Med Genet A. 2017]
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
Choucair N, Rajab M, Mégarbané A, Chouery E. Am J Med Genet A. 2017 Jul; 173(7):1955-1960. Epub 2017 May 9.

RefSeq protein isoforms
See 17 reference sequence protein isoforms for the ERI1 gene.

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Q8IV48 [Domain Mapping of Disease Mut...]
Q8IV48
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome
reagents [ExactAntigen/Labome]
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RecName: Full=3'-5' exoribonuclease 1; AltName: Full=3'-5' exonuclease ERI1; Alt...
RecName: Full=3'-5' exoribonuclease 1; AltName: Full=3'-5' exonuclease ERI1; AltName: Full=Eri-1 homolog; AltName: Full=Histone mRNA 3'-end-specific exoribonuclease; AltName: Full=Histone mRNA 3'-exonuclease 1; AltName: Full=Protein 3'hExo; Short=HEXO
gi|45476938|sp|Q8IV48.3|ERI1_HUMAN

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