dyskeratosis congenita 1, dyskerin, Mouse, Purified MaxPab™ Polyclonal Antibody, Abnova™

Mouse polyclonal antibody raised against a full-length human DKC1 protein.

Supplier:  Abnova Corporation H00001736B01P

Catalog No. 89-016-767

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

Specifications

• 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