Dyskerin ELISA Kit | DKC1 elisa kit
Dyskerin Colorimetric Cell-Based ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: EC 5.4.99.-; Isomerase; Lyase; Nucleolus; RNA processing; RNA-binding
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: box H/ACA scaRNP complex; cytoplasm; fibrillar center; nucleolus; nucleoplasm; nucleus; telomerase holoenzyme complex
Molecular Function: box H/ACA snoRNA binding; protein binding; pseudouridine synthase activity; RNA binding; telomerase activity; telomerase RNA binding
Biological Process: box H/ACA snoRNA 3'-end processing; cell proliferation; mRNA pseudouridine synthesis; positive regulation of establishment of protein localization to telomere; positive regulation of telomerase activity; positive regulation of telomerase RNA localization to Cajal body; positive regulation of telomere maintenance via telomerase; regulation of telomerase RNA localization to Cajal body; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance via telomerase
Disease: Dyskeratosis Congenita, X-linked
Research Articles on DKC1
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Product Notes
The Human, Mouse, Rat DKC1 dkc1 (Catalog #AAA9500674) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9500674 ELISA Kit recognizes Human, Mouse, Rat DKC1. It is sometimes possible for the material contained within the vial of "Dyskerin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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