USB1 Antibody, FITC conjugated

Code CSB-PA22889C0Rb
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) USB1 Polyclonal antibody
Uniprot No.
Target Names
USB1
Alternative Names
C16orf57 antibody; Chromosome 16 open reading frame 57 antibody; CP057_HUMAN antibody; FLJ13154 antibody; UPF0406 protein C16orf57 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human U6 snRNA phosphodiesterase protein (1-90AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate.
Gene References into Functions
  1. this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families PMID: 28353165
  2. Data indicate the enzymatic activities and structures of yeast and human U6 RNA processing enzyme Usb1. PMID: 28887445
  3. marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID: 27612988
  4. USB1 genes from myelodysplastic and myelodysplastic/myeloproliferative neoplasms and AML had 3 unreported variants, 2 in USB1 5'UTR (c.-83G>T and c.-66A>G), 1 in IVS3 (c.450-68dupT) and 1 (<1%) in IVS4 (c.587+21A>G/rs200924980) were detected. PMID: 26306619
  5. the link between Mpn1 and snRNA stability PMID: 26213367
  6. Mpn1 associates with the NineTeen Complex, a multiprotein complex that is essential for the maintenance of spliceosome integrity and efficient splicing. [Review] PMID: 23684637
  7. Data indicate that USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream. PMID: 23190533
  8. Recombinant hMpn1 is a 3'-to-5' RNA exonuclease that removes uridines from U6 3' ends, generating terminal 2',3' cyclic phosphates in vitro. PMID: 23022480
  9. characterization of 6 Poikiloderma with Neutropenia patients and mutational repertoire of the gene; detected 2 novel C16orf57 mutations, c.232C>T and c.265 2T>G and the reported c.179delC, c.531delA and c.693 1G>T mutations; bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function PMID: 22269211
  10. We report three cases of poikiloderma with neutropenia whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis. PMID: 21967010
  11. Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo PMID: 22899009
  12. Mutations of the C16orf57 gene permit the unification of a distinct group of genetic polikilodermal dermatoses that can be diagnosed as congenital dyskeratosis, Rothmund-Thomson syndrome, poikiloderma-neutropenia. PMID: 21497268
  13. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. PMID: 21271650
  14. findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS. PMID: 20817924
  15. report on detailed clinical features of three siblings affected with Clericuzio poikiloderma with neutropenia syndrome, all carrying the same homozygous c.504-2A>Cmutation at the acceptor splice site of intron 4 of C16orf57 gene PMID: 20734427
  16. c16orf57 has a role in clericuzio-type poikiloderma with neutropenia PMID: 20004881

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Involvement in disease
Poikiloderma with neutropenia (PN)
Subcellular Location
Nucleus.
Protein Families
2H phosphoesterase superfamily, USB1 family
Database Links

HGNC: 25792

OMIM: 604173

KEGG: hsa:79650

STRING: 9606.ENSP00000219281

UniGene: Hs.408702

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