dyskeratosis congenita 1, dyskerin ELISA Kit | DKC1 elisa kit
Rat H/ACA ribonucleoprotein complex subunit 4, DKC1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
nucleolar protein expressed in liver; colocalized with Nopp140 protein; may be involved with rRNA processing [RGD, Feb 2006]
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: Isomerase; EC 5.4.99.-; RNA processing; Nucleolus; Lyase; RNA-binding
Cellular Component: nucleoplasm; Cajal body; small nucleolar ribonucleoprotein complex; telomerase holoenzyme complex; nucleolus; nucleus
Molecular Function: telomerase activity; protein binding; RNA binding; pseudouridine synthase activity
Biological Process: RNA processing; cell proliferation; pseudouridine synthesis; box H/ACA snoRNA metabolic process; rRNA pseudouridine synthesis; RNA-dependent DNA replication; positive regulation of telomerase activity; rRNA processing; positive regulation of telomere maintenance via telomerase
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Product Notes
The Rat DKC1 dkc1 (Catalog #AAA9318668) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9318668 ELISA Kit recognizes Rat DKC1. It is sometimes possible for the material contained within the vial of "dyskeratosis congenita 1, 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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