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DKC1 Rabbit anti-Human, Polyclonal, Bethyl Laboratories

Rabbit Polyclonal Antibody

Supplier:  Bethyl Laboratories, Inc A302592A

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Catalog No. 50-156-2974


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Description

Description

The recommended shelf life for this product is 1 year from date of receipt.

This gene is a member of the H/ACA snoRNPs 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 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.
Specifications

Specifications

DKC1
Polyclonal
Unconjugated
DKC1
DKC1; dyskeratosis congenita 1, dyskerin ; DKC; NAP57; NOLA4; XAP101;
Rabbit
Antigen affinity chromatography
RUO
1736
4° C
Liquid
Immunoprecipitation, Western Blot
0.2 mg/ml
TBS with 0.1% BSA and 0.09% sodium azide
O60832
DKC1
Between 390 and 440
100 μL
Primary
Human
Antibody
IgG
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