dyskeratosis congenita 1, dyskerin, ELISA Kit

Human H/ACA ribonucleoprotein complex subunit 4 (DKC1) ELISA kit; CBF5; DKC; FLJ97620; NAP57; NOLA4; XAP101; H/ACA ribonucleoprotein complex subunit 4; cbf5p homolog; dyskerin; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; snoRNP protein DK; dyskeratosis congenita 1; dyskerin

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of DKC1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9331752 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the dyskeratosis congenita 1, dyskerin (DKC1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing DKC1. The ELISA analytical biochemical technique of the MBS9331752 kit is based on DKC1 antibody-DKC1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect DKC1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, DKC1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

57,674 Da

dyskeratosis congenita 1, dyskerin

H/ACA ribonucleoprotein complex subunit 4; CBF5 homolog; snoRNP protein DKC1; nucleolar protein NAP57; nucleolar protein family A member 4; nopp140-associated protein of 57 kDa

H/ACA ribonucleoprotein complex subunit 4

NOLA4  [Similar Products]

DKC1_HUMAN

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

dyskerin: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lyase; RNA processing; RNA-binding; Isomerase; Nucleolus; EC 5.4.99.-

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: nucleoplasm; Cajal body; telomerase holoenzyme complex; cytoplasm; nucleolus; nucleus

Molecular Function: telomerase activity; protein binding; RNA binding; pseudouridine synthase activity

Biological Process: RNA processing; cell proliferation; pseudouridine synthesis; telomere maintenance via telomerase; telomere maintenance; rRNA processing

Disease: Dyskeratosis Congenita, X-linked

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