Abnova™ Human DKC1 Partial ORF (AAH09928, 321 a.a. - 420 a.a.) Recombinant Protein with GST-tag at N-terminal

Used for AP, Array, ELISA, WB-Re

Catalog Number	Mfr. No.	Quantity
89-942-018	Abnova™ H00001736Q01L	25 ug
89-942-017	Abnova™ H00001736Q01S	10 ug

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: LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS

Specifications

• Accession Number: AAH09928
• Formulation: 50mM Tris-HCI, 10mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Weight (g/mol): 36.63kDa
• Quality Control Testing: 12.5% SDS-PAGE Stained with Coomassie Blue.
• Storage Requirements: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• Gene Alias: CBF5/DKC/FLJ97620/NAP57/NOLA4/XAP101
• Gene Symbol: DKC1
• Recombinant: Recombinant
• Expression System: wheat germ expression system

• For Use With (Application): Antibody Production, ELISA, Protein Array, Western Blot
• Gene ID (Entrez): 1736
• Name: DKC1 (Human) Recombinant Protein (Q01)
• Immunogen: LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
• Regulatory Status: RUO
• Common Name: DKC1
• Species: Wheat Germ (in vitro)
• Protein Tag: GST
• Form: Liquid