DKC1, Polyclonal Antibody

DKC1; dyskeratosis congenita 1, dyskerin; DKC; NAP57; NOLA4; XAP101; DKC1 antibody; dyskeratosis congenita 1; dyskerin antibody; DKC antibody; NAP57 antibody; NOLA4 antibody; XAP101 antibody

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

Polyclonal

Goat

Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.

Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.

100ug specific antibody in 200ul (lot specific)

Aliquot and store at -20 degree C. Minimize freezing and thawing.

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of anti-DKC1 antibody 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.

Peptide ELISA (EIA), Immunohistochemistry (IHC)

Peptide ELISA: Antibody detection limit dilution 1: 128000.
Immunohistochemistry: In paraffin embedded Human Spleen shows strong nuclear staining of select splenocytes. Recommended concentration, 5-10ug/ml.
Western Blot: Preliminary experiments gave an approx 70-75kDa band in Human Bone Marrow, Duodenum and Skin lysates after 0. 01ug/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the calculated size of 57.7kDa according to NP_001354.1. The 70-75kDa band was successfully blocked by incubation with the immunizing peptide.

(5ug/ml) staining of paraffin embedded Human Spleen. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

47,603 Da

dyskerin pseudouridine synthase 1

H/ACA ribonucleoprotein complex subunit 4

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

Chromosomal Location of Human Ortholog: Xq28

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

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

Biological Process: box H/ACA snoRNA 3'-end processing; cell proliferation; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance via telomerase

Disease: Dyskeratosis Congenita, X-linked

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