Gene: DKC1

Alternate names for this Gene: CBF5|DKC|DKCX|NAP57|NOLA4|XAP101

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: dyskerin pseudouridine synthase 1

Type of Gene: protein-coding

Gene: SNORA56

Alternate names for this Gene: ACA56

Gene Summary: Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: small nucleolar RNA, H/ACA box 56

Type of Gene: snoRNA

rs121912295 in DKC1;SNORA56 gene and X-Linked Dyskeratosis Congenita PMID 25219674 2014 Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PMID 17417794 2008 X-linked dyskeratosis congenita in Malaysia.

PMID 15304085 2004 Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.

PMID 10364516 1999 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

PMID 19879169 2010 Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.

PMID 18802941 2009 Identification of a novel mutation in DKC1 in dyskeratosis congenita.

PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 19734544 2009 Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

PMID 21610750 2011 Clinical utility gene card for: dyskeratosis congenita.