Search Results: DKC1

Redirect to:


Dyskerin
Kamis, 2026-02-12 22:47:16

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 »
Telomerase
Jumat, 2026-07-17 14:08:30

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 »
Hoyeraal–Hreidarsson syndrome
Minggu, 2026-08-02 13:14:30

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 »
Idiopathic pulmonary fibrosis
Selasa, 2026-08-18 21:48:04

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 »
DNA replication
Rabu, 2026-07-15 03:20:00

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 »
DKC
Jumat, 2024-12-20 19:27:27

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 »
FAM203B
Minggu, 2026-04-19 10:55:38

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 »
NOLA2
Sabtu, 2025-07-19 13:43:00

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 »
Gian Gaetano Tartaglia
Minggu, 2026-08-16 15:00:08

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 »
DNA polymerase epsilon
Senin, 2024-12-02 10:59:28

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 »
Pseudouridine
Sabtu, 2026-04-04 02:55:11

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 »
Origin of replication
Minggu, 2026-08-16 13:10:40

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
Sabtu, 2026-05-02 00:00:09

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 »
List of human protein-coding genes 2
Rabu, 2026-04-15 18:26:22

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 »
FAM216A
Kamis, 2025-12-11 14:51:50

roles in embryonal development, tumor transformation, and tumor development DKC1 Required for ribosome biogenesis and telomere maintenance RCF4 Replication...

Click to read more »
POLE2
Senin, 2025-08-25 11:03:36

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 »
Telomerase reverse transcriptase
Selasa, 2026-08-11 19:35:32

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 »
Stress granule
Minggu, 2026-08-16 13:31:44

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 »
Nucleolar protein, member A1
Selasa, 2025-07-15 11:32:03

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 »
POLE (gene)
Senin, 2026-04-20 10:52:07

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 »
Ribosomopathy
Senin, 2026-08-17 16:51:42

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 »
Telomerase RNA component
Rabu, 2026-08-12 00:40:10

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 »
Replicon (genetics)
Rabu, 2026-03-11 23:57:19

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 »
SMUG1
Minggu, 2025-11-23 06:07:31

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 »
POLD3
Selasa, 2025-07-15 11:37:52

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 »
POLE4
Kamis, 2024-03-28 03:32:49

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 »
List of OMIM disorder codes
Selasa, 2026-08-04 21:22:31

congenita, autosomal recessive; 224230; NOLA3 Dyskeratosis congenita-1; 305000; DKC1 Dyssegmental dysplasia, Silverman-Handmaker type; 224410; HSPG2 Dystonia...

Click to read more »