Background:This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants.
仕様
Synonyms:CBF5,CBF5 homolog,Cbf5p homolog,DKC 1,DKC,Dkc1,DKC1,DKCX,Dyskeratosis congenita 1,Dyskeratosis congenita 1 dyskerin,Dyskerin,H/ACA ribonucleoprotein complex subunit 4,NAP 57,NAP57,NOLA 4,NOLA4,Nopp140 associated protein of 57 kDa,Nopp140-associated protein of 57 kDa,Nucleolar protein family A member 4,Nucleolar protein NAP57,snoRNP protein DKC1,XAP 101,XAP101
Host:Rabbit
Reactivity:Human,Mouse
Applications:WB
Concentration:1mg/ml
Immunogen:Recombinant protein of human DKC1
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000
Gene_ID(human):1736
Swissprot:O60832
Isotype:IgG
Research Areas:Cancer, Epigenetics and Nuclear Signaling