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DKC1 ELISA试剂盒

(Dyskeratosis Congenita 1, Dyskerin (DKC1))
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, Feb 2013].
DKC1 ELISA 试剂盒 (ABIN5648049)

DKC1 适用: 人, 小鼠, 大鼠 Colorimetric Cell ELISA Cell Culture Cells

DKC1 ELISA 试剂盒 (ABIN1136044)

DKC1 适用: 小鸡 Colorimetric

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Popular DKC1 ELISA试剂盒

Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human, Mouse, Rat
Analytical Method Qualitative Cell ELISA
Validations
Cat. No. ABIN5648049
Quantity 96 tests
Datasheet Datasheet
Reactivity Chicken
Analytical Method
Validations
Cat. No. ABIN1136044
Quantity 96 tests
Datasheet Datasheet

Aliases for DKC1 ELISA试剂盒

dyskerin pseudouridine synthase 1 (DKC1) ELISA试剂盒
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