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Invitrogen™ DKC1 Polyclonal Antibody
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Catalog No. PIPA588861
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PIPA588861 100 μL
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Catalog No. PIPA588861 Supplier Invitrogen™ Supplier No. PA588861
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Rabbit Polyclonal Antibody

Immunogen sequence: MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL; Positive Samples: HeLa, 22Rv1, HepG2, MCF7, K-562; Cellular Location: Cajal body, Cytoplasm, Nucleus, nucleolus.

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.
TRUSTED_SUSTAINABILITY

Specifications

Antigen DKC1
Applications ELISA, Immunohistochemistry (Paraffin), Western Blot, Immunocytochemistry
Classification Polyclonal
Concentration 0.19 mg/mL
Conjugate Unconjugated
Formulation PBS with 50% glycerol and 0.01% thimerosal; pH 7.3
Gene DKC1
Gene Accession No. O60832, Q9ESX5
Gene Alias BC068171; CBF5; CBF5 homolog; DKC; DKC1; DKCX; dyskeratosis congenita 1, dyskerin; dyskeratosis congenita 1, dyskerin homolog; dyskerin; dyskerin pseudouridine synthase 1; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; Nap57; NOLA4; Nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Gene Symbols DKC1
Host Species Rabbit
Immunogen Recombinant fusion protein containing a sequence corresponding to amino acids 1-180 of human DKC1 (NP_0013541).
Purification Method Affinity Chromatography
Quantity 100 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 1736, 245474
Target Species Human, Mouse
Content And Storage -20°C, Avoid Freeze/Thaw Cycles
Product Type Antibody
Form Liquid
Isotype IgG
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