C16orf57 产品
(U6 SnRNA Biogenesis 1 (USB1))
Categories
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011].
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Featured C16orf57 Categories
C16orf57 抗体
High quality antibodies with extensive validation data.
C16orf57 蛋白
Proteins for various applications incl. WB, ELISA, IF etc.
Recommended C16orf57 抗体
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Reactivity
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Datasheet
Reactivity
Human
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- (2)
Cat. No.
ABIN7174180
Quantity
100 μg
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Datasheet
Reactivity
Human, Mouse, Rat
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Cat. No.
ABIN870694
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100 μg
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Datasheet
Reactivity
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Cat. No.
ABIN528982
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50 μg
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Recommended C16orf57 蛋白
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Tobacco (Nicotiana tabacum)
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Cat. No.
ABIN3075336
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HEK-293 Cells
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ABIN2715417
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Reactivity
Xenopus laevis
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ABIN1678302
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Latest Publications for our C16orf57 Products
: "Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome." in: Human molecular genetics, Vol. 19, Issue 22, pp. 4453-61, (2010) (PubMed).Synonyms and alternative names related to C16orf57
U6 snRNA biogenesis phosphodiesterase 1 (USB1), U6 snRNA biogenesis 1 (Usb1), U6 snRNA biogenesis phosphodiesterase 1 (Usb1), U6 snRNA biogenesis phosphodiesterase 1 L homeolog (usb1.L), U6 snRNA biogenesis 1 (usb1), AA960436, C2H16orf57, C16orf57, c16orf57, C18H16orf57, hUsb1, HVSL1, Mpn1, PN, RGD1305215, zgc:91896Protein level used designations for C16orf57
- HVSL motif containing 1
- U six biogenesis 1
- U6 snRNA phosphodiesterase
- UPF0406 protein C16orf57
- mutated in poikiloderma with neutropenia protein 1
- putative U6 snRNA phosphodiesterase
- UPF0406 protein C16orf57 homolog
- U6 snRNA biogenesis 1
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