半岛bd体育手机客户端 说明
一般描述
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)
免疫原
DKC1 (NP_001354, 1 a.a. ~ 514 a.a) full-length human protein.
Sequence
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
外形
Solution in phosphate buffered saline, pH 7.4
免责声明
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
半岛bd体育手机客户端 性质
质量水平 | 100 |
生物来源 | mouse |
偶联物 | unconjugated |
抗体形式 | purified immunoglobulin |
antibody product type | primary antibodies |
克隆 | polyclonal |
形式 | buffered aqueous solution |
分子量 | antigen ~57.7 kDa |
species reactivity | human |
technique(s) | immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable indirect immunofluorescence: suitable western blot: 1 μg/mL |
NCBI登记号 | NM_001363 |
UniProt登记号 | O60832 |
运输 | dry ice |
储存温度 | ?20℃ |
Gene Information | human ... DKC1(1736) |
安全信息
储存分类代码 | 13 - Non Combustible Solids |
WGK | WGK 1 |
闪点(F) | Not applicable |
闪点(C) | Not applicable |
Sigma-Aldrich