GTX109000
DKC1 antibody
Eine Lieferung in diese Region ist nicht möglich.
- SKU:
- GTX109000
- Zusätzliche Namen:
- dyskerin pseudouridine synthase 1 , CBF5 , DKC , DKCX , NAP57 , NOLA4 , XAP101
- Anwendung:
- WB, IHC-P, IF, ICC, IP
- Konzentration:
- 1 mg/ml
- Physischer Zustand:
- Liquid
- Spezies-Reaktivität:
- Human
- Aufreinigung:
- Affinity Purified
- Lagerbedingungen:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Hersteller:
- Genetex
- Host:
- Rabbit
- Reaktivitäten:
- Human
- Buffer:
- PBS, 1% BSA, 20% Glycerol, 0.01% Thimerosal.
- Immunogen:
- Recombinant protein encompassing a sequence within the center region of human DKC1. The exact sequence is proprietary.
- Uniprot:
- O60832
- Synonyme:
- CBF5;CBF5 homolog;DKC;DKCX;dyskeratosis congenita 1, dyskerin;Dyskerin;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
- Weitere Details:
- 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]
- Versandbedingungen:
- Blue Ice