DKC1 (Human) Recombinant Protein (Q01)
产品名称： DKC1 (Human) Recombinant Protein (Q01)
英文名称： DKC1 (Human) Recombinant Protein (Q01)
产品编号： H00001736-Q01
产品价格： 0
产品产地： 台湾
品牌商标： Abnova
更新时间： null
使用范围： null
亚诺法生技股份有限公司（Abnova)
- 联系人 :
- 地址 : 台湾台北市内湖区洲子街 108 号 9 楼
- 邮编 : 11493
- 所在区域 : 台湾
- 电话 : +886-920**1152 点击查看
- 传真 : 点击查看
- 邮箱 : sales@abnova.com.tw
- Specification
- Product Description:
- Human DKC1 partial ORF ( AAH09928, 321 a.a. - 420 a.a.) recombinant protein with GST-tag at N-terminal.
- Sequence:
- LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
- Theoretical MW (kDa):
- 36.63
- Preparation Method:
- in vitro wheat germ expression system
- Purification:
- Glutathione Sepharose 4 Fast Flow
- Storage Buffer:
- 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
- Storage Instruction:
- Store at -80°C. Aliquot to avoid repeated freezing and thawing.
- Quality Control Testing:
- 12.5% SDS-PAGE Stained with Coomassie Blue.
- Note:
- Best use within three months from the date of receipt of this protein.
- MSDS:
Download
- Application Image
- Enzyme-linked Immunoabsorbent Assay
- Western Blot (Recombinant protein)
- Antibody Production
- Protein Array
- Entrez GeneID:
- 1736
- GeneBank Accession#:
- BC009928
- Protein Accession#:
- AAH09928
- Gene Name:
- DKC1
- Gene Alias:
- CBF5,DKC,FLJ97620,NAP57,NOLA4,XAP101
- Gene Description:
- dyskeratosis congenita 1, dyskerin
- Gene Ontology:
- Hyperlink
- Gene Summary:
- 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
- Other Designations:
- H/ACA ribonucleoprotein complex subunit 4,OTTHUMP00000026046,cbf5p homolog,dyskerin,nopp140-associated protein of 57 kDa,nucleolar protein family A member 4,snoRNP protein DKC1
- Related Disease