USB1 Antibody

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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HGNC: 25792

OMIM: 604173

KEGG: hsa:79650

STRING: 9606.ENSP00000219281

UniGene: Hs.408702