DKC1 : dyskerin pseudouridine synthase 1

Description

The DKC1 (dyskerin pseudouridine synthase 1) is a protein-coding gene located on chromosome X.

The DKC1 gene provides instructions for making dyskerin, a protein crucial for maintaining telomeres, the protective caps at chromosome ends. Telomeres prevent chromosomes from sticking together or breaking down, and they gradually shorten with each cell division. Telomerase, an enzyme that adds DNA segments to telomere ends, is essential for telomere maintenance, and dyskerin helps stabilize the telomerase complex. Dyskerin also plays a role in producing ribosomal RNA (rRNA), which is necessary for assembling proteins. Dyskerin's involvement in telomere maintenance and rRNA production highlights its vital roles in cell division, growth, and function.

[Isoform 1]: The DKC1 protein is the catalytic subunit of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which is responsible for pseudouridylation of rRNA. This process involves the isomerization of uridine, attaching the ribose to C5 instead of the normal N1. Each rRNA can have up to 100 pseudouridine residues, which likely help stabilize the rRNA's conformation. DKC1 is essential for ribosome biogenesis and telomere maintenance. It is also required for the correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

DKC1 is also known as CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101.

Associated Diseases

• Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
• Dyskeratosis congenita
• Dyskeratosis congenita, X-linked
• Hoyeraal-Hreidarsson syndrome
• Idiopathic pulmonary fibrosis