DKC1 Antibody is a Rabbit Polyclonal antibody against DKC1. 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, Dec 2008].
Target |
H/ACA Ribonucleoprotein Complex Subunit DKC1 (DKC1) |
Clonality |
Polyclonal |
Reactivity |
Human, Mouse |
Tested Applications |
IHC, IF/ICC |
Host |
Rabbit |
Recommended dilutions |
IHC-P: 1/50 - 1/100, IF/ICC: 1/50 - 1/100. Not tested in IHC-F. Optimal dilutions/concentrations should be determined by the end user. |
Conjugation |
Unconjugated |
Immunogen |
Recombinant fusion protein corresponding to human DKC1 |
Isotype |
IgG |
Form |
Liquid |
Purification |
Purified by affinity chromatography. |
Storage |
Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles. |
UniProt Primary AC |
O60832 (UniProt,
ExPASy)
|
UniProt Secondary AC |
F5BSB3, O43845, Q96G67, Q9Y505 |
UniProt Entry Name |
DKC1_HUMAN |
Gene Symbol |
DKC1 |
GeneID |
1736
|
NCBI Accession |
NP_001354.1
|
KEGG |
hsa:1736
|
String |
9606.ENSP00000358563
|
Buffer |
PBS, pH 7.3, containing 0.02% sodium azide, 50% glycerol. |
Concentration |
1 mg/ml |
Availability |
Shipped within 5-10 working days. |
Note |
THIS PRODUCT IS FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC, THERAPEUTIC OR COSMETIC PROCEDURES. NOT FOR HUMAN OR ANIMAL CONSUMPTION. |
Research Articles on H/ACA Ribonucleoprotein Complex Subunit DKC1 (DKC1)