dyskerin pseudouridine synthase 1

Normal function

ال DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).

In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).

Telomeres are maintained by two important protein complexes, telomerase and shelterin. Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. One component of telomerase, called hTR, provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The dyskerin protein attaches (binds) to hTR and helps stabilize the telomerase complex.

In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.

Dyskerin is also involved in the production of ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA is required for assembling protein building blocks (amino acids) into functioning proteins.

Conditions referring to this gene or chromosome

• التليف الرئوي مجهول السبب

• Dyskeratosis congenita

Other names

CBF5

CBF5 homolog

cbf5p homolog

DKC

DKC1_HUMAN

dyskeratosis congenita 1, dyskerin

dyskerin

FLJ97620

H/ACA ribonucleoprotein complex subunit 4

H/ACA ribonucleoprotein complex subunit 4 isoform 1

H/ACA ribonucleoprotein complex subunit 4 isoform 2

NAP57

NOLA4

nopp140-associated protein of 57 kDa

nucleolar protein family A member 4

nucleolar protein NAP57

snoRNP protein DKC1

XAP101