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ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene. The encoded protein, known as dyskerin, is a highly conserved nucleolar...
Click to read more »subcomplex. The H/ACA subcomplex consists of two copies each of dyskerin (DKC1), NHP2, NOP10 and GAR1. Each copy of the H/ACA subcomplex binds to a hairpin...
Click to read more »accelerated telomere shortening. It has been associated with mutations in DKC1, TERT, RTEL1, TINF2, ACD, and PARN. Neuroimaging – cerebellar hypoplasia/atrophy...
Click to read more »Recently an X-linked mutation in a third telomerase-associated gene, dyskerin (DKC1), has been described in a family with IPF.[unreliable medical source?] An...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »Dyskeratosis congenita, a genetic disease Dyskerin, a gene also known as DKC1 DKC (company), a public relations company This disambiguation page lists...
Click to read more »with the FAM203B protein including C1orf112, HEATR3, MRTO4, BYSL, GINS1, DKC1, TXNDC12, PWP2, IMP4, and NIP7. FAM203A is 99% identical to FAM203B with...
Click to read more »classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the...
Click to read more »SPEN, HNRNPK, HNRNPU, and DKC1 (ranked by interaction propensity); Bottom: eCLIP validation of the binding regions. Protein DKC1 is used as a negative control...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »Hoyeraal-Hreidarsson syndrome are two rare inherited syndromes caused by mutations in DKC1, the gene encoding for the pseudouridine synthase dyskerin. Pseudouridines...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »of one or more mutations in the long arm of the X chromosome in the gene DKC1. This results in the X-linked recessive form of the disease wherein the major...
Click to read more »A7MBM2 4289 DISP3 HGNC:29251; Q9P2K9 4290 DIXDC1 HGNC:23695; Q155Q3 4291 DKC1 HGNC:2890; O60832 4292 DKK1 HGNC:2891; O94907 4293 DKK2 HGNC:2892; Q9UBU2...
Click to read more »roles in embryonal development, tumor transformation, and tumor development DKC1 Required for ribosome biogenesis and telomere maintenance RCF4 Replication...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »functional. Lastly, iPS cells generated with DKC cells with a mutated dyskerin (DKC1) gene cannot assemble the hTERT/RNA complex and thus do not have functional...
Click to read more »Exoribonuclease 2 DISC1 Disrupted in Schizophrenia 1 Disrupted In Schizophrenia 1 DKC1 DKC1 dyskerin; H/ACA ribonucleoprotein complex subunit 4 DNAI1 Axonemal Dynein...
Click to read more »classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »RPS26 - 603701 OMIM: Ribosomal protein L15; RPL15 - 604174 OMIM: Dyskerin; DKC1 - 300126 Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11...
Click to read more »vivo. The H/ACA domain of TERC recruits the dyskerin complex (composed of DKC1, GAR1, NOP10, and NHP2), which stabilises TERC, increasing telomerase complex...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »biomarker for survival. SMUG1 has been shown to interact with RBPMS and with DKC1. Click on genes, proteins and metabolites below to link to respective articles...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »POLE2 POLE3 POLE4 DNA clamp PCNA Control of chromosome duplication Both Movement: Processivity DNA ligase Termination Telomere: Telomerase TERT TERC DKC1...
Click to read more »congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis congenita-1; 305000; DKC1 Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2 Dystonia...
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