Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and MDS/AML, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature ageing and cognitive impairment can be a feature. The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.
In molecular biology, small nucleolar RNAs (snoRNAs) are a class of small RNA molecules that primarily guide chemical modifications of other RNAs, mainly ribosomal RNAs, transfer RNAs and small nuclear RNAs. There are two main classes of snoRNA, the C/D box snoRNAs, which are associated with methylation, and the H/ACA box snoRNAs, which are associated with pseudouridylation. SnoRNAs are commonly referred to as guide RNAs but should not be confused with the guide RNAs that direct RNA editing in trypanosomes or the guide RNAs (gRNAs) used by Cas9 for CRISPR gene editing.
rRNA 2'-O-methyltransferase fibrillarin is an enzyme that in humans is encoded by the FBL gene.
Telomerase RNA component, also known as TR, TER or TERC, is an ncRNA found in eukaryotes that is a component of telomerase, the enzyme used to extend telomeres. TERC serves as a template for telomere replication by telomerase. Telomerase RNAs differ greatly in sequence and structure between vertebrates, ciliates and yeasts, but they share a 5' pseudoknot structure close to the template sequence. The vertebrate telomerase RNAs have a 3' H/ACA snoRNA-like domain.
H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.
Heterogeneous nuclear ribonucleoprotein F is a protein that in humans is encoded by the HNRNPF gene.
U5 small nuclear ribonucleoprotein 200 kDa helicase is an enzyme that in humans is encoded by the SNRNP200 gene.
Heterogeneous nuclear ribonucleoprotein H3 is a protein that in humans is encoded by the HNRNPH3 gene.
U4/U6 small nuclear ribonucleoprotein Prp4 is a protein that in humans is encoded by the PRPF4 gene. The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF4 is 1 of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM]
Nucleolar protein 56 is a protein that in humans is encoded by the NOP56 gene.
Nucleolar protein 58 is a protein that in humans is encoded by the NOP58 gene.
H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.
Heterogeneous nuclear ribonucleoprotein A0 is a protein that in humans is encoded by the HNRNPA0 gene.
Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.
U3 small nucleolar RNA-interacting protein 2 is a protein that in humans is encoded by the RRP9 gene.
Heterogeneous nuclear ribonucleoprotein D-like, also known as HNRPDL, is a protein which in humans is encoded by the HNRPDL gene.
U3 small nucleolar ribonucleoprotein protein MPP10 is a protein that in humans is encoded by the MPHOSPH10 gene.
Zinc finger protein 346 is a protein that in humans is encoded by the ZNF346 gene.
RNA-binding protein 28 is a protein that in humans is encoded by the RBM28 gene. It is a nucleolar component of the spliceosomal ribonucleoprotein complexes.
U3 small nucleolar ribonucleoprotein protein IMP4 is a protein that in humans is encoded by the IMP4 gene.
