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U6 snRNA Phosphodiesterase (USB1)

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HVSL1; C16orf57; HVSL Motif Containing 1; Poikiloderma With Neutropenia

U6 snRNA Phosphodiesterase (USB1)
CCC R486
HGNC 25792
MGI 2142454
PubMed 20004881
RGD 1305215
UniProt Q9BQ65
Defects in C16orf57 are the cause of poikiloderma with neutropenia (PN). PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias.
The deduced 265-amino acid protein contains 5 helical domains and is highly conserved among vertebrates. C16ORF57 was significantly expressed in myeloid lineage cells. C16ORF57 gene contains 7 exons.In 3 affected sibs from a highly consanguineous Italian family with poikiloderma and neutropenia (PN),

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant U6 snRNA Phosphodiesterase (USB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for U6 snRNA Phosphodiesterase (USB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for U6 snRNA Phosphodiesterase (USB1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant U6 snRNA Phosphodiesterase (USB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for U6 snRNA Phosphodiesterase (USB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for U6 snRNA Phosphodiesterase (USB1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant U6 snRNA Phosphodiesterase (USB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to U6 snRNA Phosphodiesterase (USB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for U6 snRNA Phosphodiesterase (USB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for U6 snRNA Phosphodiesterase (USB1) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene."Am. J. Hum. Genet. 86:72-76(2010) [PubMed] [Europe PMC] [Abstract]
  5. "Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia."Am. J. Med. Genet. A 152:1347-1348(2010) [PubMed] [Europe PMC] [Abstract]
  6. "C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification."Genes Dev. 26:1911-1925(2012) [PubMed] [Europe PMC] [Abstract]
  7. "Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia."Blood 121:1028-1038(2013) [PubMed] [Europe PMC] [Abstract]