C16orf57 Products
(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 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
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Application
ELISA, IHC
Validations
- (2)
Cat. No.
ABIN7174180
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Human, Mouse, Rat
Application
WB, ELISA
Validations
- (2)
Cat. No.
ABIN870694
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Cow, Dog, Guinea Pig, Hamster, Horse, Human, Monkey, Mouse, Pig, Rabbit, Rat
Application
WB
Validations
- (1)
Cat. No.
ABIN6747953
Quantity
100 μL
Datasheet
Datasheet
Recommended C16orf57 Proteins
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Tobacco (Nicotiana tabacum)
Validations
Cat. No.
ABIN3075336
Quantity
1 mg
Datasheet
Datasheet
Reactivity
Human
Source
HEK-293 Cells
Validations
- (1)
Cat. No.
ABIN2715417
Quantity
20 μg
Datasheet
Datasheet
Reactivity
Xenopus laevis
Source
Yeast
Validations
Cat. No.
ABIN1678302
Quantity
1 mg
Datasheet
Datasheet
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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