89-016-767
dyskeratosis congenita 1, dyskerin, Mouse, Purified MaxPab™ Polyclonal Antibody, Abnova™
Manufacturer: Abnova Corporation
Select a Size
| Pack Size | SKU | Availability | Price |
|---|---|---|---|
| Each of 1 | 89-016-767-Each-of-1 | In Stock | ₹ 46,458.00 |
89-016-767 - Each of 1
In Stock
Quantity
1
Base Price: ₹ 46,458.00
GST (18%): ₹ 8,362.44
Total Price: ₹ 54,820.44
Antigen
dyskeratosis congenita 1, dyskerin
Classification
Polyclonal
Description
Mouse polyclonal antibody raised against a full-length human DKC1 protein.
Gene
DKC1
Gene Alias
CBF5/DKC/FLJ97620/NAP57/NOLA4/XAP101
Host Species
Mouse
Purification Method
Affinity Purified
Regulatory Status
RUO
Gene ID (Entrez)
1736
Content And Storage
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
Isotype
IgG
Applications
Immunofluorescence, Immunohistochemistry (PFA fixed), Western Blot
Conjugate
Unconjugated
Formulation
PBS with no preservative; pH 7.4
Gene Accession No.
NM_001363
Gene Symbols
DKC1
Immunogen
DKC1 (NP_001354, 1 a.a. ∼ 514 a.a) full-length human protein.
Quantity
50 μg
Primary or Secondary
Primary
Target Species
Human
Product Type
Antibody
Related Products
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 Sequence: MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE