Dyskerin (DKC)
DKC1; NAP57; NOLA4; XAP101; Dyskeratosis Congenita 1; H/ACA Ribonucleoprotein Complex Subunit 4
 HGNC 2890
 MGI 1861727
 PubMed 16841302
 UniProt O60832
 USCN C446
 Wiki Dyskerin
Dyskerin (DKC)
Dyskeratosis congenita 1, dyskerin,is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins). 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. 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 (MPP1) gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a