Tel: 1-631-626-9181 (USA)   44-207-097-1828 (Europe)

CBpromise   

Our promise to you:
Guaranteed product quality, expert customer support.

24x7 CUSTOMER SERVICE
CONTACT US TO ORDER

dkc1

Bookmark and Share
Official Full Name
dyskeratosis congenita 1, dyskerin
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. [provided by RefSeq, Jan 2014]
Synonyms
DKC1; dyskeratosis congenita 1, dyskerin; DKC; CBF5; DKCX; NAP57; NOLA4; XAP101; H/ACA ribonucleoprotein complex subunit 4; CBF5 homolog; snoRNP protein DKC1; nucleolar protein NAP57; nucleolar protein family A member 4; nopp140-associated protein of 57 kDa; dyskerin; cbf5p homolog; FLJ97620; fv62a07; wu:fa28f10; wu:fc87a02; wu:fi24a05; wu:fv62a07; zgc:110395; fc87a02; fi24a05