RecName: Full=Cytosolic 5'-nucleotidase 3A; AltName: Full=7-methylguan - Protein

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[Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review]. [Zhonghua Xue Ye Xue Za Zhi. 2021]
[Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review].
Li Y, Zhao X, Hu XR, Li JP, Xiong YZ, Sun XX, Ye L, Yang Y, Li Y, Yang WR, et al. Zhonghua Xue Ye Xue Za Zhi. 2021 Aug 14; 42(8):680-682.
A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. [J Pediatr Hematol Oncol. 2019]
A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.
Köker SA, Oymak Y, Bianchi P, Fermo E, Karapinar TH, Gözmen S, Ay Y, Vergin RC. J Pediatr Hematol Oncol. 2019 Nov; 41(8):e484-e486.
The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling. [Sci Signal. 2018]
The intracellular pyrimidine 5'-nucleotidase NT5C3A is a negative epigenetic factor in interferon and cytokine signaling.
Al-Haj L, Khabar KSA. Sci Signal. 2018 Feb 20; 11(518). Epub 2018 Feb 20.

RefSeq genomic sequence
See the genomic reference sequence for the NT5C3A gene (NG_015800.1).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the NT5C3A gene.

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Q9H0P0 [Domain Mapping of Disease Mut...]
Q9H0P0
Domain Mapping of Disease Mutations
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RecName: Full=Cytosolic 5'-nucleotidase 3A; AltName: Full=7-methylguanosine phos...
RecName: Full=Cytosolic 5'-nucleotidase 3A; AltName: Full=7-methylguanosine phosphate-specific 5'-nucleotidase; Short=7-methylguanosine nucleotidase; AltName: Full=Cytosolic 5'-nucleotidase 3; AltName: Full=Cytosolic 5'-nucleotidase III; Short=cN-III; AltName: Full=Pyrimidine 5'-nucleotidase 1; Short=P5'N-1; Short=P5N-1; Short=PN-I; AltName: Full=Uridine 5'-monophosphate hydrolase 1; AltName: Full=p36
gi|117949804|sp|Q9H0P0.3|5NT3A_HUMA

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