anti-Dyskeratosis Congenita 1, Dyskerin Antibodies

Protein Summary

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.

Alternative names and synonyms associated with Dyskeratosis Congenita 1, Dyskerin (DKC1)

• dyskerin pseudouridine synthase 1 (DKC1) antibody
• microRNA 664b (MIR664B) antibody
• dyskeratosis congenita 1, dyskerin (dkc1) antibody
• dyskeratosis congenita 1, dyskerin L homeolog (dkc1.L) antibody
• dyskeratosis congenita 1, dyskerin (Dkc1) antibody
• Show all gene names
• dyskerin pseudouridine synthase 1 (Dkc1) antibody
• homologue of NAP57 (NAP57) antibody

• AtCBF5 antibody
• AtNAP57 antibody
• BC068171 antibody
• cbf5 antibody
• dkc antibody
• Show all synonym aliases
• DKC1 antibody
• DKCX antibody
• dyskerin antibody
• fv62a07 antibody
• homologue of NAP57 antibody
• Nap57 antibody
• nola4 antibody
• wu:fa28f10 antibody
• wu:fc87a02 antibody
• wu:fi24a05 antibody
• wu:fv62a07 antibody
• xap101 antibody
• zgc:110395 antibody

Protein level used designations for DKC1

CBF5 homolog , H/ACA ribonucleoprotein complex subunit 4 , cbf5p homolog , nopp140-associated protein of 57 kDa , nucleolar protein NAP57 , nucleolar protein family A member 4 , snoRNP protein DKC1 , dyskerin , fc87a02 , fi24a05 , dyskeratosis congenita 1, dyskerin , H/ACA ribonucleoprotein complex subunit 4-like , h/ACA ribonucleoprotein complex subunit 4-like , dyskeratosis congenita 1, dyskerin homolog