RecName: Full=U6 snRNA phosphodiesterase 1; Short=hUsb1; AltName: Full - Protein

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Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type. [Br J Haematol. 2024]
Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
Parajuli P, Craig DB, Gadgeel M, Bagla S, Wright RE 3rd, Chu R, Shanti CM, Thirunagari R, Grover SK, Ravindranath Y. Br J Haematol. 2024 Feb; 204(2):683-693. Epub 2023 Oct 1.
Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations. [J Dermatol. 2023]
Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations.
Yan C, Zhou T, Geng S. J Dermatol. 2023 Sep; 50(9):e278-e279. Epub 2023 Mar 20.
USB1 is a miRNA deadenylase that regulates hematopoietic development. [Science. 2023]
USB1 is a miRNA deadenylase that regulates hematopoietic development.
Jeong HC, Shukla S, Fok WC, Huynh TN, Batista LFZ, Parker R. Science. 2023 Mar 3; 379(6635):901-907. Epub 2023 Mar 2.

RefSeq genomic sequence
See the genomic reference sequence for the USB1 gene (NG_027698.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the USB1 gene.

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Q9BQ65 [Domain Mapping of Disease Mut...]
Q9BQ65
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=U6 snRNA phosphodiesterase 1; Short=hUsb1; AltName: Full=3'-5' RNA...
RecName: Full=U6 snRNA phosphodiesterase 1; Short=hUsb1; AltName: Full=3'-5' RNA exonuclease USB1; AltName: Full=Mutated in poikiloderma with neutropenia protein 1; Short=Mutated in PN protein 1; Short=hMpn1
gi|74732815|sp|Q9BQ65.1|USB1_HUMAN

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