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C16orf57 Products

(U6 SnRNA Biogenesis 1 (USB1))

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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 Antibodies

High quality antibodies with extensive validation data.

C16orf57 Proteins

Proteins for various applications incl. WB, ELISA, IF etc.

Recommended C16orf57 Antibodies

Product
Reactivity
Application
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Cat. No.
Quantity
Datasheet
Reactivity Human
Application ELISA, IHC
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Cat. No. ABIN7174180
Quantity 100 μg
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Reactivity Human, Mouse, Rat
Application WB, ELISA
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Cat. No. ABIN870694
Quantity 100 μg
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Reactivity Cow, Dog, Guinea Pig, Hamster, Horse, Human, Monkey, Mouse, Pig, Rabbit, Rat
Application WB
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Cat. No. ABIN6747953
Quantity 100 μL
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Recommended C16orf57 Proteins

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Reactivity
Source
Validations
Cat. No.
Quantity
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Reactivity Human
Source Tobacco (Nicotiana tabacum)
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Quantity 1 mg
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Reactivity Human
Source HEK-293 Cells
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Cat. No. ABIN2715417
Quantity 20 μg
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Reactivity Xenopus laevis
Source Yeast
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Cat. No. ABIN1678302
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Latest Publications for our C16orf57 products

Walne, Vulliamy, Beswick, Kirwan, Dokal: "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:91896

Protein 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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