Rabbit DKC1 Polyclonal Antibody | anti-DKC1 antibody
DKC1 (Dyskeratosis Congenita 1, Dyskerin, DKC, CBF5, DKCX, NAP57, NOLA4, XAP101) (MaxLight 750)
WB: 1:500-1:2000
IHC: 1:50-1:200
Applications are based on unconjugated antibody.
NCBI and Uniprot Product Information
NCBI Description
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
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; RNA processing; RNA-binding; Lyase; EC 5.4.99.-; Nucleolus
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: nucleoplasm; Cajal body; cytoplasm; telomerase holoenzyme complex; 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
Research Articles on DKC1
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Product Notes
The DKC1 dkc1 (Catalog #AAA6414185) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The DKC1 (Dyskeratosis Congenita 1, Dyskerin, DKC, CBF5, DKCX, NAP57, NOLA4, XAP101) (MaxLight 750) reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's DKC1 can be used in a range of immunoassay formats including, but not limited to, Immunofluorescence (IF), Western Blot (WB), Immunohistochemistry (IHC). IF: 1:50-1:200 WB: 1:500-1:2000 IHC: 1:50-1:200 Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the DKC1 dkc1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "DKC1, Polyclonal Antibody" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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